Chromosome 7
Chromosome 6 << >> Chromosome 8Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 7a rs7456436 - rs6465633' No data = 0 Rare SNPs = 79 Minor Allele Frequency >0 and <0.01 = 359 Minor Allele Frequency >=0.01 and <0.02 = 384 Minor Allele Frequency >=0.02 and <0.03 = 428 Minor Allele Frequency >=0.03 and <0.05 = 890 Minor Allele Frequency >=0.05 and <0.5 = 22859 Total of SNPs = 24989 There are also 102 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '7b rs9641218 - rs1124425' No data = 0 Rare SNPs = 247 Minor Allele Frequency >0 and <0.01 = 836 Minor Allele Frequency >=0.01 and <0.02 = 567 Minor Allele Frequency >=0.02 and <0.03 = 548 Minor Allele Frequency >=0.03 and <0.05 = 1125 Minor Allele Frequency >=0.05 and <0.5 = 22177 Total of SNPs = 25500 There are also 273 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01 rs28746498 at Chr7:87124921 gave 'AG' The minor allele is 'A' with a MAF = 0.00000. rs3917593 at Chr7:94778005 gave 'AG' The minor allele is 'A' with a MAF = 0.00411. ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01 rs13232752 at Chr7:15986115 gave 'AG' The minor allele is 'A' with a MAF = 0.00639 rs10249320 at Chr7:34092147 gave 'CT' The minor allele is 'T' with a MAF = 0.00274 ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01 rs17323815 at Chr7:29928791 gave 'AC' The minor allele is 'C' with a MAF = 0.00274 rs17880824 at Chr7:94817899 gave 'CT' The minor allele is 'T' with a MAF = 0.00457. rs17876199 at Chr7:94877916 gave 'GT' The minor allele is 'G' with a MAF = 0.00639. rs17876184 at Chr7:94901962 gave 'AG' The minor allele is 'A' with a MAF = 0.00594. rs17754559 at Chr7:149106859 gave 'AG' The minor allele is 'A' with a MAF = 0.00776 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs11 Intergenic - ('ut') 'CT' MAF = 0.00500 The 1000 Genome Project says about 1 in 200 persons. ---------------------------------------------------------------------------------------------------------------- rs12 Intergenic - ('ut') 'AC' MAF = 0.00457 The 1000 Genome Project says about 1 in 200 persons. ---------------------------------------------------------------------------------------------------------------- rs14 Intergenic - ('gb') 'CT' MAF = 0.00365 The 1000 Genome Project says about 1 in 200 persons. ('sd') 'TT' ---------------------------------------------------------------------------------------------------------------- rs1432 THSD7A thrombospondin, type I, domain containing 7A - synonymous D906D ('th') 'AG' MAF = 0.00731 Possibly 5% in Europe and 2% in Asia, and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs5762 TBXAS1 thromboxane A synthase 1 (platelet) - missense R425C ('ar') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs5763 TBXAS1 thromboxane A synthase 1 (platelet) - missense T383N ('cm') 'AC' MAF = 0.00594 Possibly 5% in Europe and lower elsewhere. The change T<>N is uncommon, but the amino acids are similar. Possibly significant. ---------------------------------------------------------------------------------------------------------------- rs5768 Intergenic - ('fc') 'AC' MAF = 0.00411. Appears 2% in Asia, 1% in Europe and absent from Africa ---------------------------------------------------------------------------------------------------------------- rs6138 TBXAS1 thromboxane A synthase 1 (platelet) - missense R61H (2) ('ct') 'AG' MAF = 0.00900 Appears about 2% in Europe and Asia, absent fom Africa. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs13921 POR P450 (cytochrome) oxidoreductase - UTR-3 ('th') 'CT' MAF = 0.00228 The 1000 Genome Project gives just 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs16934 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('rf') 'AG' MAF = 0.00959. Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs31631 CROT carnitine O-octanoyltransferase - intron ('ac') 'AG' MAF = 0.00868 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs31663 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 - intron ('cv') 'AG' MAF = 0.00914 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs37942 Intergenic - ('cd') 'CT' MAF = 0.00776 Possibly 10% in Europe and far lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs41725 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('fc') 'CT' MAF = 0.00868. Appears 3% in Asia, 1% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs724665 SLC25A40 solute carrier family 25, member 40 - missense T123I ('hu') 'AG' MAF = 0.00594 Appears 3% in Europe and absent elsewhere. The change T<>I is common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1004388 ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough - UTR-3 ('cm') 'GT' MAF = 0.00685. Appears 2% in Europe & Asia and absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs1004387 PTCD1 pentatricopeptide repeat domain 1 - UTR-3 ('cm') 'AG' MAF = 0.00685. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1015685 COG5 component of oligomeric golgi complex 5 - intron ('bb') 'CT' MAF = 0.00950 Poor population data. Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs1050102 SMARCD3 SWI/SNF related, matrix associated - synonymous H276H ('gm') 'AG' MAF = 0.00900. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1060516 KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 - UTR-3 ('cf') 'GT' MAF = 0.00000. openSNP suggest 1%. ---------------------------------------------------------------------------------------------------------------- rs1063242 AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 - missense P2971S ('za') 'CT' MAF = 0.00091 Possibly 1% in Europe and absent elsewhere. The change P<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1202418 NF282 zinc finger protein 282 - missense M273V (1) ('m6') 'AG' MAF = 0.00319 Appears 1% in Europe and absent elsewhere. The change M<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1273679 ZNF655 zinc finger protein 655 - missense E203K ('br') 'AG' MAF = 0.00045 Possibly 1 per 1000 in Europe. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs1295023 OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) - intron ('ev') 'GT' MAF = 0.00959 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1364727 Intergenic - ('vp') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1557660 Intergenic - ('ss','rf') 'CT' MAF = 0.00000. Possibly 30% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1559549 LOC100506302 uncharacterized LOC100506302 - intron ('er') 'AG' MAF = 0.00411. The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1800072 CFTR cystic fibrosis transmembrane conductance regulator - missense V11I ('je') 'AG' MAF = 0.00000 Appears 1 per 1000 worldwide. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1800073 FTR cystic fibrosis transmembrane conductance regulator - missense R31C ('rr') 'CT' MAF = 0.00137 Appears about 2 per 1000 worldwide. The change R<>C is uncommon and the homozygous form could be significant. The SNP could be a cystic fibrosis variant. ---------------------------------------------------------------------------------------------------------------- rs1800097 CFTR cystic fibrosis transmembrane conductance regulator - missense V562I ('bn') 'AG' MAF = 0.00045 The 1000 Genome Project gives 1 per 2500. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1800098 CFTR cystic fibrosis transmembrane conductance regulator - missense G576A ('tu') 'CG' MAF = 0.00500 Possibly appears 1% worldwide. The change G<>A is uncommon and the homozygous form could be significant. For an old reference see: http://omim.org/entry/602421#602421Variants0061; ---------------------------------------------------------------------------------------------------------------- rs1800100 CFTR cystic fibrosis transmembrane conductance regulator - missense R668C ('tu') 'CT' MAF = 0.00411 Appears 1% in Europe and absent elsewhere. The change R<>C is uncommon and the homozygous form could be significant. See perhaps: http://www.ncbi.nlm.nih.gov/sites/varvu?gene=1080&rs=1800100 ---------------------------------------------------------------------------------------------------------------- rs1800112 CFTR cystic fibrosis transmembrane conductance regulator - missense I1027T ('ld') 'CT' MAF = 0.00200 The 1000 Genome Project gives 2 per 1000. The change I<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1805318 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) - missense T597S ('dm') 'AT' MAF = 0.00319 Appears 3% in Europe, 1% in Asia and absent from Africa. The change T<>S is not very common and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs1820339 Intergenic - ('ja') 'GT' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1990554 LOC100505938 uncharacterized LOC100505938 - intron ('rz') 'AC' MAF = 0.00914 Maybe 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs2069457 CDK5 cyclin-dependent kinase 5 - intron ('rz') 'CT' MAF = 0.00731. Appears up to 8% in Africa and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2072415 NDUFB2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa - intron ('za') 'AG' MAF = 0.00548 Maybe 10% in Africa and much lower elsewhere. ('wh') 'GG' ---------------------------------------------------------------------------------------------------------------- rs2158061 Intergenic - ('mj') 'AG' MAF = 0.00914 Appears about 1% in Europe and Africa, absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs2229860 RELN reelin - missense P1703R ('sk') 'CG' MAF = 0.00045 Appears 1% in Europe and absent elsewhere. The change P<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2232106 URGCP upregulator of cell proliferation - missense T697A ('mt') 'CT' MAF = 0.00548. The 1000 Genome Project gives 5 per 1000. The change T<>A is commmon and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2233578 PAX4 paired box 4 - missense R133W ('fk') 'AG' MAF = 0.00400. Appears 8% in Africa and absent elsewhere. The change R<>W is uncommon and the homozygous form could be significant. See: http://omim.org/entry/167413 Associated with 'Diabetes Mellitus' in W. Africa. ---------------------------------------------------------------------------------------------------------------- rs2234000 TAS2R4 taste receptor, type 2, member 4 - missense T74M (2) ('j4') 'CT' MAF = 0.00822 Appers 13% in Asia and absent elsewhere. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2234013 TAS2R5 taste receptor, type 2, member 5 - missense G20S ('di') 'AG' MAF = 0.00319 Appears 1% in Europe and absent elsewhere. The change G<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2235043 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('jp') 'AG' MAF = 0.00365. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2235063 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('rr') 'CT' MAF = 0.00548. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2235066 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('jy') 'CT' MAF = 0.00457. Appears 8% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2288646 ASIC3 acid-sensing (proton-gated) ion channel 3 - synonymous P536P ('kd') 'AG' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2302536 EGFR epidermal growth factor receptor - synonymous P373P ('ly') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2305335 HERPUD2 HERPUD family member 2 - missense H200L ('a1') 'AT' MAF = 0.00228 Appears 7% in Asia and absent elsewhere. The change H<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2686809 LRCH4 leucine-rich repeats and calponin homology (CH) - intron ('rr') 'AG' MAF = 0.00500. Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3087361 POLD2 polymerase (DNA directed) - UTR-3 ('si') 'AC' MAF = 0.00045. Maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3212007 CD36 CD36 molecule (thrombospondin receptor) - intron ('lb') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3735354 TBXAS1 thromboxane A synthase 1 (platelet) - missense E388K ('jy') 'AG' MAF = 0.00274. Appears 2% in Asia, 1% in Europe and absent in Africa. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs3748131 DTX2P1-UPK3BP1-PMS2P11 DTX2P1-UPK3BP1-PMS2P11 readthrough - intron ('gn') 'AG' MAF = 0.00999 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3917593 PON1 paraoxonase 1 - intron ('b') 'AG' MAF = 0.00411. Poor data, maybe 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3917597 PON1 paraoxonase 1 - intron ('st') 'CG' MAF = 0.00731 Possibly 5% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3918229 NOS3 nitric oxide synthase 3 (endothelial cell) - intron ('ab') 'CT' MAF = 0.00091 Possibly 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3918239 ATG9B ATG9 autophagy related 9 homolog B (S. cerevisiae) - intron ('ap','b') 'CT' MAF = 0.00548 Poor worldwide data. Maybe 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3918232 NOS3 nitric oxide synthase 3 (endothelial cell) - missense V827M ('ch') 'AG' MAF = 0.00800 Appears about 1% worldwide. The change V<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4147633 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 - intron ('jy') 'AG' MAF = 0.00457. The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4245575 SUMF2 sulfatase modifying factor 2 - intron ('jd') 'AC' MAF = 0.00045 Appears 4% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs4720577 Intergenic - ('wv') 'CT' MAF = 0.00182 Uncommon, The 1000 Genome Project gives just 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4726665 Intergenic - ('bb') 'AC' MAF = 0.00914 Possilby 11% in Europe and much lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4732359 Intergenic - ('vs') 'AG' MAF = 0.00137 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4986910 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 - missense M445T ('pi') 'AG' MAF = 0.00228. Appears 2% in Europe. The change M<>T is commn and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4986913 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 - missense P467S ('rz') 'AG' MAF = 0.00000. About 2% in Asia and absent elsewhere. The change P<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs6592989 Intergenic - ('jf') 'GT' MAF = 0.00000 Possibly 24% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6944126 MACC1 metastasis associated in colon cancer 1 - UTR-3 ('zn') 'AG' MAF = 0.00776 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6963426 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP) - intron ('be') 'AG' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6966503 MACC1 metastasis associated in colon cancer 1 - intron ('wh') 'AG' MAF = 0.00868 Possibly 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6970026 FAM185A family with sequence similarity 185, member A - intron ('mp') 'CT' MAF = 0.00776 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6970680 Intergenic - ('lw') 'AG' MAF = 0.00914 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6971013 LMTK2 lemur tyrosine kinase 2 - synonymous G1494G ('cv') 'CT' MAF = 0.00000 An uncommon SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs7780535 MICALL2 MICAL-like 2 - nearGene-5 ('rf') 'AG' MAF = 0.00400 Appears 1% in Europe and Africa, but absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs7786554 HOXA1 homeobox A1 - UTR-3 ('cd') 'AG' MAF = 0.00411 Appears 2% in Europe & Africa and absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs7789020 CCT6P3 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 - nearGene-5 ('be') 'AC' MAF = 0.00411 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7794389 FAM133B family with sequence similarity 133, member B - intron ('bb') 'GT' MAF = 0.00457 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7799060 Intergenic - ('gb') 'CT' MAF = 0.00502 About 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7799716 RPA3 replication protein A3, 14kDa - intron ('kw') 'AG' MAF = 0.00868 Appears 11% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7801492 FBXO24 F-box protein 24 - missense R302H ('tk') 'AG' MAF = 0.00685 Appears 4% in Europe, 2% in Asia and absent from Africa. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs8175346 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 - intron ('cm') 'GT' MAF = 0.00685. Appears up to 9% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8176059 KEL Kell blood group, metallo-endopeptidase - missense R281W ('mb') 'AG' MAF = 0.00594 Appears about 1% worldwide. The change R<>W is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs8177173 EPHB6 EPH receptor B6 - missense G122S ('th') 'AG' MAF = 0.00457 Appears 6% in Europe and less elsewhere. The change G<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs8179006 KCNH2 potassium voltage-gated channel, subfamily H (eag-related) - unknown ('ct') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs8187797 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 - missense E528D ('na') 'CG' MAF = 0.00959 Appears 5% in Africa and absent elsewhere. The change E<>D is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs8192838 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('vv') 'CT' MAF = 0.00639 Appears 8% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8192851 TBXAS1 thromboxane A synthase 1 (platelet) - intron 'GT' MAF = 0.00274 Appears 7% in Asia and absent elsewhere. ('mi') 'GG' ---------------------------------------------------------------------------------------------------------------- rs8192860 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('jy') 'AC' MAF = 0.00776 Appears 11% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8192863 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('sy') 'CT' MAF = 0.00091 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs8192868 TBXAS1 thromboxane A synthase 1 (platelet) - missense E382K ('ss','ut') 'AG' MAF = 0.00776 Possibly 6% in Europe and less elsewhere. ('md') 'AA' The change E<>K is uncommon and the homozygous form may be significant. ---------------------------------------------------------------------------------------------------------------- rs9282563 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - synonymous L884L (1) ('nb') 'AG' MAF = 0.00045. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9333633 SHH sonic hedgehog - synonymous S190S ('jh') 'CT' MAF = 0.00045. The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs9641019 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('a1') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs10046531 PMPCB peptidase (mitochondrial processing) beta - intron ('mp') 'GT' MAF = 0.00914 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs10226727 ZNRF2 zinc and ring finger 2 - intron ('wh') 'AC' MAF = 0.00457 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10234196 PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 - intron ('mp') 'AG' MAF = 0.00914 Appears 11% in Africa, 1% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs10236241 Intergenic - ('sf') 'GT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs10236874 Intergenic - ('lr') 'AG' MAF = 0.00502 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10237767 BAIAP2L1 BAI1-associated protein 2-like 1 - intron ('ps') 'CT' MAF = 0.00411 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10245620 ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa - nearGene-5 ('ai') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs10248318 NCAPG2 non-SMC condensin II complex, subunit G2 - missense T794M ('dy') 'AG' MAF = 0.00822 Appears 3% in Africa and absent elsewhere. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs10249320 BMPER BMP binding endothelial regulator - missense R555W ('i') 'CT' MAF = 0.00274 Maybe 1-2% in Europe and Asia. The change R<>W is very uncommon, and this SNP may be significant when homozygous. ---------------------------------------------------------------------------------------------------------------- rs10253202 AHR aryl hydrocarbon receptor - UTR-5 ('tk') 'AG' MAF = 0.00950 Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10258184 DNAJC2 DnaJ (Hsp40) homolog, subfamily C, member 2 - intron ('mp') 'AG' MAF = 0.00914 Appears 10% in Africa, 4% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs10263071 NPTX2 neuronal pentraxin II - nearGene-5 ('ct') 'CT' MAF = 0.00548 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10273731 BAZ1B bromodomain adjacent to zinc finger domain, 1B - intron ('na') 'CT' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs10486797 LOC646999 akirin 1 pseudogene - ncRNA ('jw') 'CT' MAF = 0.00914 Possibly 9% in Asia, 1% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs10487818 NAMPT nicotinamide phosphoribosyltransferase - intron ('lw') 'AT' MAF = 0.00639 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11522987 Intergenic - ('cy') 'AG' MAF = 0.00182 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11563711 GRM8 glutamate receptor, metabotropic 8 - intron ('rr') 'AG' MAF = 0.00045 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11576048 Intergenic - ('si') 'AG' MAF = 0.00502. No population details. ---------------------------------------------------------------------------------------------------------------- rs11576049 Intergenic - ('ac') 'CT' MAF = 0.00502. The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11760237 Intergenic - ('ds') 'CT' MAF = 0.00868 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11762709 Intergenic - ('hs') 'AT' MAF = 0.00137 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11763119 Intergenic - ('mb') 'CT' MAF = 0.00914 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11765138 BAZ1B bromodomain adjacent to zinc finger domain, 1B - intron ('hs') 'AG' MAF = 0.00137 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11765270 Intergenic - ('tk') 'AG' MAF = 0.00868 Possibly 10% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs11765511 Intergenic - ('rf') 'CT' MAF = 0.00731 Appears 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11768549 EPHA1 EPH receptor A1 - missense R492Q ('eb') 'CT' MAF = 0.00639 Possibly 3% in Europe. The change R<>Q is rare and the homozygous form amy be significant. ---------------------------------------------------------------------------------------------------------------- rs11770642 Intergenic - ('je') 'AC' MAF = 0.00228 Possibly 2% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs11772720 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP) - synonymous D279D ('pi') 'CT' MAF = 0.00731 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11773001 Intergenic - ('kd') 'GT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11971258 Intergenic - 'GT' MAF = 0.00000 Uncommon in Europe, 4-7% in Africa and Asia. ---------------------------------------------------------------------------------------------------------------- rs11974041 CLDN15 claudin 15 - nearGene-5 ('lp') 'CT' MAF = 0.00045 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11978942 ZMIZ2 zinc finger, MIZ-type containing 2 - missense G126S ('c5') 'AG' MAF = 0.00000 Appears 2% in Asia and absent elsewhere. The change G<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11983556 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('lg') 'CT' MAF = 0.00319 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12154319 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP) - intron ('hu') 'AG' MAF = 0.00776 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12334069 TNPO3 transportin 3 - intron ('md') 'AG' MAF = 0.00959 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12534498 DTX2 deltex homolog 2 (Drosophila) - missense V128I ('cb','ab') 'AG' MAF = 0.00822 Appears about 2% worldwide. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs12666759 SLC13A1 solute carrier family 13 (sodium/sulfate symporters) - intron ('rf') 'CT' MAF = 0.00000 An uncommon SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs12706543 Intergenic - ('cv') 'GT' MAF = 0.00502 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12707242 NUP205 nucleoporin 205kDa - synonymous G262G ('bb') 'CT' MAF = 0.00457 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12721617 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 - intron ('ls') 'GT' MAF = 0.00182. Appears about 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13236028 Intergenic - (dm') 'AC' MAF = 0.00300 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs13306701 PON2 paraoxonase 2 - synonymous K91K ('a1') 'CT' MAF = 0.00411. Appears 9% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13223412 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('ml') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs13225917 TTC26 tetratricopeptide repeat domain 26 - missense D310N ('dd') 'AG' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. The change D<>N is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs13228098 STEAP2 STEAP family member 2, metalloreductase - missense G214E ('eb') 'AG' MAF = 0.00959 Maybe 8% in Europe. The change G<>E is rare and the homozygous form may be significant. ---------------------------------------------------------------------------------------------------------------- rs13232752 Intergenic - ('i') 'AG' MAF = 0.00639 Maybe 8% in Europe and absent elsewhere. ('bb') 'AA' ---------------------------------------------------------------------------------------------------------------- rs13232844 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('nc') 'GT' MAF = 0.00900 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs13244264 CRHR2 corticotropin releasing hormone receptor 2 - UTR-3 ('jn') 'AG' MAF = 0.00411 Appears about 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16873785 CPA4 carboxypeptidase A4 - UTR-3 ('ar') 'CT' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17133812 SDK1 sidekick cell adhesion molecule 1 - intron ('sk') 'CT' MAF = 0.00731 Possibly 13% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs17157998 IMMP2L IMP2 inner mitochondrial membrane peptidase-like - intron ('ds') 'CT' MAF = 0.00137 The 1000 genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17161224 TBXAS1 thromboxane A synthase 1 (platelet) - intron ('cc') 'CT' MAF = 0.00959 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17168969 MEOX2 mesenchyme homeobox 2 - intron ('jf') 'AG' MAF = 0.00502 Appears 3% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17172883 Intergenic - ('za') 'CT' MAF = 0.00868 Possibly 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17290239 EGFR epidermal growth factor receptor - UTR-3 ('ab') 'AG' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17290246 EGFR epidermal growth factor receptor - intron ('bb') 'AG' MAF = 0.00457 Possibly 6% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17323815 SCRN1 secernin 1 - UTR-3 ('k') 'AC' MAF = 0.00274 Maybe 2% in Europe, and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17323815 SCRN1 secernin 1 - UTR-3 'AC' MAF = 0.00274 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17329325 RUNDC3B RUN domain containing 3B - intron ('mh') 'CT' MAF = 0.00914 maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17327942 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP) - intron ('pc') 'AG' MAF = 0.00822 Appears 3% in Europe and absent elsewhere. ('an') 'GG' ---------------------------------------------------------------------------------------------------------------- rs17335682 EGFR epidermal growth factor receptor - nearGene-5 ('s9') 'AG' MAF = 0.00600 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17336800 EGFR epidermal growth factor receptor - synonymous G503G ('ls') 'CT' MAF = 0.00731 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17336988 EGFR epidermal growth factor receptor - synonymous P676P ('th') 'AG' MAF = 0.00868 Appears 2% worldwide, but up to 6% in Italy. ---------------------------------------------------------------------------------------------------------------- rs17337528 EGFR epidermal growth factor receptor - UTR-3 ('jt') 'AG' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17431071 C7orf58 chromosome 7 open reading frame 58 - UTR-3 ('ap') 'AG' MAF = 0.00639 Maybe 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17472154 Intergenic - ('mb') 'DI' MAF = 0.00999 Possibly 5% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17541846 SLC13A1 solute carrier family 13 (sodium/sulfate symporters), member 1 - intron ('mh') 'CT' MAF = 0.00959 maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17565995 VOPP1 vesicular, overexpressed in cancer, prosurvival protein 1 - intron ('bn') 'AC' MAF = 0.00685 Possibly 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17730300 SND1 staphylococcal nuclease and tudor domain containing 1 - intron ('cm') 'AG' MAF = 0.00914 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17754559 SSPO SCO-spondin homolog (Bos taurus) - missense V298M ('k') 'AG' MAF = 0.00776 Maybe 6% in Europe and lower elsewhere. The change V<>M is common and not usually harmful. ---------------------------------------------------------------------------------------------------------------- rs11760936 FEZF1 FEZ family zinc finger 1 - intron ('nl') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11768758 SLC13A1 solute carrier family 13 (sodium/sulfate symporters) - intron ('mt') 'CT' MAF = 0.00365 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17793768 CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 - synonymous S81S ('ch') 'CT' MAF = 0.00685 Appears about 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17804854 AGBL3 ATP/GTP binding protein-like 3 - missense T360I ('eb') 'CT' MAF = 0.00502 Appears 3% in Europe, less elsewhere. The change T<>I is common and probably insignificant. ---------------------------------------------------------------------------------------------------------------- rs17853284 POR P450 (cytochrome) oxidoreductase - missense P228L ('ch') 'CT' MAF = 0.00319 Possibly 4% in Europe, and absent elsewhere. The change P<>L is uncommon and the homozygous form could be significant. --------------------------------------------------------------------------------------------------------------- rs17866845 Intergenic - ('ng') 'CT' MAF = 0.00959 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17876184 PON2 paraoxonase 2 - intron ('k','ut') 'AG' MAF = 0.00594 Poor data. Maybe 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17876199 PON2 paraoxonase 2 -intron ('k','ut') 'GT' MAF = 0.00639 Poor data. Maybe 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17880470 PON3 paraoxonase 3 - synonymous Y203Y ('cv') 'AG' MAF = 0.00228. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17880615 ACHE acetylcholinesterase - intron ('pc') 'AG' MAF = 0.00900. Possibly 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17880824 Intergenic - ('k','ut') 'CT' MAF = 0.00457 Poor data. Maybe 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs17883550 PON3 paraoxonase 3 - intron ('cb') 'CT' MAF = 0.00502. The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17883824 PON3 paraoxonase 3 - intron ('ly') 'CT' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28365083 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 - missense T398N ('my') 'GT' MAF = 0.00137. Appears 1% in Europe and absent elsewhere. The change T<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28371763 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 - UTR-3 ('tt') 'AT' MAF = 0.00685 Possibly 13% in Europe and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28371766 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 - intron ('mr') 'CT' MAF = 0.00045. The 1000 Genome Project gives 1 per 2250. ---------------------------------------------------------------------------------------------------------------- rs28381714 RUNDC3B RUN domain containing 3B - intron ('gg') 'CT' MAF = 0.00411. Possibly 4% in Europe and lower absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28381733 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('sk') 'CT' MAF = 0.00731. Appears about 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28381741 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('oi') 'CT' MAF = 0.00045. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28381753 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('jt') 'CT' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28381788 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP) - intron ('gr') 'AG' MAF = 0.00045. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28381793 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('jh') 'CT' MAF = 0.00274. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28381916 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('nb') 'CT' MAF = 0.00137. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28405775 FAM20C family with sequence similarity 20, member C - intron ('kr') 'AG' MAF = 0.00868 Poor data. Appears 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28665718 Intergenic - ('jr') 'CT' MAF = 0.00457 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28746498 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('b') 'AG' MAF = 0.00000 Poor data, but appears very low in Europe. ---------------------------------------------------------------------------------------------------------------- rs28746501 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - intron ('mu') 'AG' MAF = 0.00731. Possibly 5% in Europe, 1% in Africa and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs34048349 FBXO24 F-box protein 24 - intron ('ch') 'AG' MAF = 0.00731 Appears about 7% in Europe and less elsewhere. -------------------------------------------------------------------------------------------------------------- rs34543870 Intergenic - ('ch') 'CT' MAF = 0.00411 Appears about 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34545616 SMO smoothened, frizzled family receptor - missense P647S ('mb') 'CT' MAF = 0.00319 Appears about 1% worldwide. The change P<>S is fairly common and this SNP is probably not significant. ---------------------------------------------------------------------------------------------------------------- rs34585297 TRIM24 tripartite motif containing 24 - missense R975S (3) ('zl') 'GT' MAF = 0.00200 The 1000 Genome Project gives 2 per 1000. The change R<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34589476 MET met proto-oncogene (hepatocyte growth factor receptor) - missense R970C ('rf') 'CT' MAF = 0.00137 The 1000 Genome Project gives just 1 per 1000. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34767327 Intergenic - ('na') 'AG' MAF = 0.00639 The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs34768413 GATAD1 GATA zinc finger domain containing 1 - missense R233W ('be') 'CT' MAF = 0.00959. Possibly 1% worldwide. The change R<>W is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34938955 AHR aryl hydrocarbon receptor - UTR-5 ('c5') 'CT' MAF = 0.00000 openSNP suggests 1%. ---------------------------------------------------------------------------------------------------------------- rs35303224 CPSF4 cleavage and polyadenylation specific factor 4, 30kDa - unknown ('ut') 'AG' MAF = 0.00548. Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs35516286 CFTR cystic fibrosis transmembrane conductance regulator - missense I148T ('dd') 'CT' MAF = 0.00100 The 1000 Genome Project gives 1 per 1000. The change I<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35620669 AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 - nearGene-5 ('bu') 'AG' MAF = 0.00091 The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs35703484 AHR aryl hydrocarbon receptor - nearGene-5 ('tk') 'AC' MAF = 0.00959 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35704760 TFR2 transferrin receptor 2 - synonymous D419D ('ng') 'AG' MAF = 0.00300. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35865357 DNAH11 dynein, axonemal, heavy chain 11 - missense R3004Q ('lz') 'AG' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. The change R<>Q ins uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41258414 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 - intron ('er') 'AC' MAF = 0.00045 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs41275018 TBXAS1 thromboxane A synthase 1 (platelet) - synonymous S52S ('eb') 'AG' MAF = 0.00274 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs41279857 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 - missense S100Y ('ls') 'GT' MAF = 0.00200 Uncommon. Appears about 3 per 1000 worldwide. The change S<>Y is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41299478 POR P450 (cytochrome) oxidoreductase - intron ('za') 'CT' MAF = 0.00457 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs41311778 TBXAS1 thromboxane A synthase 1 (platelet) - missense R466Q (2) ('m5') 'AG' MAF = 0.00200 The 1000 Genome Project gives 2 per 1000. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs45465393 CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 - nearGene-5 ('mc') 'AG' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs45575636 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 - missense R590Q ('md') 'CT' MAF = 0.00731. Possibly 6% in Africa, 4% in Europe and absent from Asia. The change R<>Q is uncommon and the homozygous form could be significant. See: http://www.ncbi.nlm.nih.gov/pubmed/19584064 Association: 'Cholestasis of Pregnancy'. ---------------------------------------------------------------------------------------------------------------- rs52815063 NPC1L1 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 - missense I1233N ('ut') 'AT' MAF = 0.00800 Appears 1% worldwide. The change I<>N is uncommon and a homozygous result could be significant. ---------------------------------------------------------------------------------------------------------------- rs55638457 SLC26A4 solute carrier family 26, member 4 - missense L597S ('tu') 'CT' MAF = 0.00700 The 1000 Genome Project gives 7 per 1000. The change L<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs55785340 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 - missense S173P ('ap') 'AG' MAF = 0.00091 Poor data. Appears about 1 per 1000 worldwide. The change S<>P is fairly common. ---------------------------------------------------------------------------------------------------------------- rs55852620 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 - missense Q1107P (2) ('m4') 'GT' MAF = 0.00594 The 1000 Genome Project gives 5 per 1000. The change Q<>P is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs55960271 CLCN1 chloride channel, voltage-sensitive 1 - missense R894X ('jf') 'CT' MAF = 0.00000 An uncommon SNP. The SNP truncates the protein. Linked to myotonia. See: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801423/ ---------------------------------------------------------------------------------------------------------------- rs58238559 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 - missense T175A ('ac') 'CT' MAF = 0.00500 Appears 1% worldwide. The change T<>A is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61729032 KEL Kell blood group, metallo-endopeptidase - missense E494V ('ap') 'AT' MAF = 0.00274 Poor data. Appears about 3 per 1000 worldwide The change E<>V is rare. A homozygous result could be significant. ---------------------------------------------------------------------------------------------------------------- rs61729036 KEL Kell blood group, metallo-endopeptidase - missense R281Q ('q4') 'CT' MAF = 0.00999 An uncommon SNP. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61729034 KEL Kell blood group, metallo-endopeptidase - missense V302A ('so') 'AG' MAF = 0.00000. An uncommon SNP. The change V<>A is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61729055 KEL Kell blood group, metallo-endopeptidase - missense S363N (2) ('jt') 'CT' MAF = 0.00999 An uncommon SNP. The change S<>N is uncommon and the homozygous form could be significant. See: http://www.ncbi.nlm.nih.gov/pubmed?Db=pubmed&Cmd=DetailsSearch&Term=11375401 ---------------------------------------------------------------------------------------------------------------- rs61750420 PEX1 peroxisomal biogenesis factor 1 - missense G843D (2) ('pz') 'CT' MAF = 0.00999 An uncommon SNP. The change G<>D is uncommon and the homozygous form could be significant. Associated with 'peroxisome biogenesis disorder'. See: http://omim.org/entry/602136#0001 ---------------------------------------------------------------------------------------------------------------- rs63750055 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) - missense L571I ('ti') 'GT' MAF = 0.00822. The 1000 genome Project gives 8 per 1000. The change L<>I is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs63750451 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) - missense R628X ('me') 'AG' MAF = 0.00999 An uncommon SNP. The SNP truncates the protein and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs72658162 COL1A2 collagen, type I, alpha 2 - frameshift error at 699 ('cv') 'DI' MAF = 0.00999 Uncommon SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs72658163 COL1A2 collagen, type I, alpha 2 - missense R708Q ('gn') 'AG' MAF = 0.00999 Uncommon, possibly 1 per 1000 worldwide. The change R<>Q is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------