Chromosome 3
Chromosome 2 << >> Chromosome 4Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome 3a rs13060385 - rs17416597' No data = 0 Rare SNPs = 133 Minor Allele Frequency >0 and <0.01 = 580 Minor Allele Frequency >=0.01 and <0.02 = 518 Minor Allele Frequency >=0.02 and <0.03 = 517 Minor Allele Frequency >=0.03 and <0.05 = 990 Minor Allele Frequency >=0.05 and <0.5 = 22067 Total of SNPs = 24805 There are also 210 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '3b rs1158602 - rs9877084' No data = 0 Rare SNPs = 70 Minor Allele Frequency >0 and <0.01 = 317 Minor Allele Frequency >=0.01 and <0.02 = 494 Minor Allele Frequency >=0.02 and <0.03 = 552 Minor Allele Frequency >=0.03 and <0.05 = 1085 Minor Allele Frequency >=0.05 and <0.5 = 22467 Total of SNPs = 24985 There are also 141 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 'Chromosome '3c rs9812437 - rs10433653' No data = 0 Rare SNPs = 37 Minor Allele Frequency >0 and <0.01 = 111 Minor Allele Frequency >=0.01 and <0.02 = 183 Minor Allele Frequency >=0.02 and <0.03 = 242 Minor Allele Frequency >=0.03 and <0.05 = 520 Minor Allele Frequency >=0.05 and <0.5 = 11740 Total of SNPs = 12833 There are also 91 i-SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs1497 at Chr3:3166813 gave 'GT' The minor allele is 'G' with a MAF = 0.00914 rs2307293 at Chr3:130633075 gave 'CG' The minor allele is 'G' with a MAF = 0.00365 rs17479823 at Chr3:162711908 gave 'CT' The minor allele is 'T' with a MAF = 0.00639 rs9863968 at Chr3:174088803 gave 'AG' The minor allele is 'A' with a MAF = 0.00365 rs2231223 at Chr3:185383886 gave 'AG' The minor allele is 'A' with a MAF = 0.00776 rs2590446 at Chr3:189078365 gave 'AA' The minor allele is 'A' with a MAF = 0.00639 ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01: rs3112394 at Chr3:12328303 gave 'CT' The minor allele is 'T' with a MAF = 0.00639 rs3105364 at Chr3:12443690 gave 'AG' The minor allele is 'G' with a MAF = 0.00685. rs4361233 at Chr3:33167297 gave 'AG' The minor allele is 'G' with a MAF = 0.00959 rs17595410 at Chr3:49293269 gave 'AG' The minor allele is 'A' with a MAF = 0.00274 rs301933 at Chr3:98835913 gave 'CT' The minor allele is 'C' with a MAF = 0.00900 rs13064568 at Chr3:122035033 gave 'AC' The minor allele is 'C' with a MAF = 0.00959 rs34548758 at Chr3:123384072 gave 'CT' The minor allele is 'T' with a MAF = 0.00685 rs13081244 at Chr3:130332050 gave 'CT' The minor allele is 'T' with a MAF = 0.00274 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs1497 CRBN cereblon - UTR-3 ('i') 'GT' MAF = 0.00914 maybe 7% in Europe and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs279552 Intergenic - ('jw') 'AG' MAF = 0.00639 Possibly 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs301933 EPHA6 EPH receptor A6 - intron ('k') 'CT' MAF = 0.00900 Maybe 1% in Europe and much higher in Asia. ('mi') 'CC' ---------------------------------------------------------------------------------------------------------------- rs460965 FANCD2 Fanconi anemia, complementation group D2 - intron ('jw') 'CT' MAF = 0.00594. Possibly 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs581808 NKTR natural killer-tumor recognition sequence - intron ('hu') 'CT' MAF = 0.00776. Appears 7% in Europe, higher in Africa and absent in Asia. ---------------------------------------------------------------------------------------------------------------- rs751793 ARHGAP31 Rho GTPase activating protein 31 - missense P221L ('jv') 'CT' MAF = 0.00000 Appears 2% in Asia and absent elsewhere. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs796289 PPARG peroxisome proliferator-activated receptor gamma - intron ('ds') 'CT' MAF = 0.00868 Appeas 2% in Europe and absent elsewehere. ---------------------------------------------------------------------------------------------------------------- rs930818 KIAA2018 KIAA2018 - missense V2200A ('db') 'AG' MAF = 0.00000 Appears 2% in Asia and absent elsewhere. The change V<>A is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1551427 OSTN osteocrin - nearGene-5 ('mz') 'CT' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs1768160 Intergenic - ('aa') 'AG' MAF = 0.00776 Appears 7% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs1800146 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) - synonymous L412L ('jw') 'GT' MAF = 0.00274 Appears 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs1805640 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 - intron ('dm') 'AG' MAF = 0.00548 Possibly 1-2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1836914 MME membrane metallo-endopeptidase - nearGene-5 ('bn') 'CT' MAF = 0.00868. Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1846640 Intergenic - ('ss') 'AG' MAF = 0.00274 Possibly 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1916752 Intergenic - ('kd') 'AG' MAF = 0.00319. Possibly 3% in Asia. ---------------------------------------------------------------------------------------------------------------- rs2067466 HRH1 histamine receptor H1 - missense K19N ('jw') 'CG' MAF = 0.00319 Appears about 1% worldwide. The change K<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2170536 RAB43 RAB43, member RAS oncogene family - intron ('m6') 'GT' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2176898 Intergenic - ('kr') 'GT' MAF = 0.00731. Appears 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2231223 AP2M1 adaptor-related protein complex 2, mu 1 subunit - intron ('i','pa') 'AG' MAF = 0.00776 Maybe 5% in Italy, and absent outside Europe. ('oi') 'AA' ---------------------------------------------------------------------------------------------------------------- rs2232337 IL17RB interleukin 17 receptor B - missense G177R ('be') 'AG' MAF = 0.00319 Possibly 5% in Europe and Asia, and 1% in Africa. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2233463 ALG3 asparagine-linked glycosylation 3 - missense I107V ('kw') 'CT' MAF = 0.00639. The 1000 Genome Project gives 6 per 1000. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2305395 EDEM1 ER degradation enhancer, mannosidase alpha-like 1 - intron ('sy') 'AG' MAF = 0.00685. Appears 11% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2307293 MBD4 methyl-CpG binding domain protein 4 - missense D568H ('i') 'CG' MAF = 0.00365 Appears about 1% worldwide. A little higher perhaps in Asia. The change D<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2307298 MBD4 methyl-CpG binding domain protein 4 - missense I358T ('jd') 'AG' MAF = 0.00548. appears 2% in Asia and absent elsewhere. The change I<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2332284 DTX3L deltex 3-like (Drosophila) - intron ('gb') 'CT' MAF = 0.00548 Appears about 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2350507 CLSTN2 calsyntenin 2 - intron ('ct') 'CT' MAF = 0.00502 Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2590446 Intergenic - ('i') 'AA' MAF = 0.00639 Heterozygous maybe 3% in Italy, and absent outside Europe. ---------------------------------------------------------------------------------------------------------------- rs2655259 PPARG peroxisome proliferator-activated receptor gamma - intron ('pa') 'CT' MAF = 0.00822. Maybe 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2693059 ZBTB20 zinc finger and BTB domain containing 20 - UTR-5 ('na') 'AG' MAF = 0.00868. Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2862633 Intergenic - ('pa') 'CT' MAF = 0.00950 Up to 4% in Asia. poor data ---------------------------------------------------------------------------------------------------------------- rs3087450 MCM2 minichromosome maintenance complex component 2 - missense A396T ('rr') 'AG' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3105364 PPARG peroxisome proliferator-activated receptor gamma - intron ('k') 'AG' MAF = 0.00685. Maybe 3% in Italy, and absent from Africa and Asia. ---------------------------------------------------------------------------------------------------------------- rs3112394 PPARG peroxisome proliferator-activated receptor gamma - intron ('k') 'CT' MAF = 0.00639 Maybe 3% in Italy, and absent from Africa and Asia. ---------------------------------------------------------------------------------------------------------------- rs3732380 CX3CR1 chemokine (C-X3-C motif) receptor 1 - missense V147I ('jy') 'CT' MAF = 0.00457 Appears 4% in Asia and absent elsewhere. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3733058 ZBTB47 zinc finger and BTB domain containing 47 - synonymous E477E ('gb') 'AG' MAF = 0.00228 Appears 1% in Africa, 2% in Asia and absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs3733101 FYCO1 FYVE and coiled-coil domain containing 1 - missense T381M ('al') 'AG' MAF = 0.00502. Appears 7% in Asia, 1% in Europe and absent from Africa. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3774395 CCK cholecystokinin - missense R95W ('sy') 'AG' MAF = 0.00731 Possibly 4% in Asia, 1% in Africa and absent from Europe. The change R<>W is uncommon and the homozygous from could be significant. ---------------------------------------------------------------------------------------------------------------- rs3814399 BOC Boc homolog (mouse) - synonymous A201A ('bb') 'CT' MAF = 0.00411 Appears 1% in Europe and up to 20% in Asia. ---------------------------------------------------------------------------------------------------------------- rs3821874 Intergenic - ('ab') 'CT' MAF = 0.00000. Uncommon. Possibly 1% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3829986 CSF1R colony stimulating factor 1 receptor - missense V279M ('jy') 'CT' MAF = 0.00776. Appears 9% in Asia and absent elsewhere. The change V<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4135255 PPARG peroxisome proliferator-activated receptor gamma - intron ('so') 'AG' MAF = 0.00411 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4135259 PPARG peroxisome proliferator-activated receptor gamma - intron ('s9') 'CT' MAF = 0.00045 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4135260 PPARG peroxisome proliferator-activated receptor gamma - intron ('ah') 'CT' MAF = 0.00000 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs4135277 PPARG peroxisome proliferator-activated receptor gamma - intron ('ng') 'CG' MAF = 0.00091 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4135281 PPARG peroxisome proliferator-activated receptor gamma - intron ('ah') 'CT' MAF = 0.00000 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs4135285 PPARG peroxisome proliferator-activated receptor gamma - intron ('dx') 'AG' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4135290 PPARG peroxisome proliferator-activated receptor gamma - intron ('ng') 'AG' MAF = 0.00091 Possibly 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs4135292 PPARG peroxisome proliferator-activated receptor gamma - intron ('ab','st') 'AG' MAF = 0.00914 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4135296 PPARG peroxisome proliferator-activated receptor gamma - intron ('bn') 'CT' MAF = 0.00182. The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4135326 PPARG peroxisome proliferator-activated receptor gamma - intron 'AG' MAF = 0.00182 Appears 1% in Africa and the Pacific. ('wh') 'AA' ---------------------------------------------------------------------------------------------------------------- rs4135350 PPARG peroxisome proliferator-activated receptor gamma - intron ('mb') 'AG' MAF = 0.00091 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4135309 PPARG peroxisome proliferator-activated receptor gamma - intron ('zn') 'CT' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4148595 ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 - UTR-3 ('pg') 'AG' MAF = 0.00137. The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4361233 SUSD5 sushi domain containing 5 - UTR-3 ('k') 'AG' MAF = 0.00959 maybe 9% in Europe and absent elsewhere. ('jl') 'GG' ---------------------------------------------------------------------------------------------------------------- rs4371498 PPARG peroxisome proliferator-activated receptor gamma - intron ('kr') 'GT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs4494951 ACAD9 acyl-CoA dehydrogenase family, member 9 - missense R477Q ('th') 'AG' MAF = 0.00914 Possibly 4% in Europe, 1% in Africa, but absent from Asia. The change R<>Q is uncommon and the homozygous form could significant. ---------------------------------------------------------------------------------------------------------------- rs4681522 WWTR1 WW domain containing transcription regulator 1 - UTR-3 ('gb') 'CT' MAF = 0.00457 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4682559 Intergenic - ('bn') 'AG' MAF = 0.00502 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6773906 H1FX-AS1 H1FX antisense RNA 1 (non-protein coding) - intron ('rz') 'CT' MAF = 0.00411 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs6773850 Intergenic - ('dm') 'CT' MAF = 0.00959 Possilby 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6780460 ANO10 anoctamin 10 - intron ('na') 'AG' MAF = 0.00868 Appears 16% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6783778 Intergenic - ('jv') 'CT' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6788355 NEK4 NIMA (never in mitosis gene a)-related kinase 4 - intron ('ig') 'CT' MAF = 0.00776 Appears 10% in Africa, absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs6790340 Intergenic - ('lr') 'AG' MAF = 0.00685 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6791924 SCN5A sodium channel, voltage-gated, type V, alpha subunit - missense R34C ('ss') 'AG' MAF = 0.00000 Absent in Europe and Asia. An African SNP. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6798318 Intergenic - ('af') 'AG' MAF = 0.00548 Possibly 10% in Europe. ---------------------------------------------------------------------------------------------------------------- rs6800223 Intergenic - ('ny') 'GT' MAF = 0.00000 Appears 29% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6805995 Intergenic - ('my') 'CT' MAF = 0.00868 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7622242 Intergenic - ('ek') 'CT' MAF = 0.00000 openSNP suggest 1 per 150. ---------------------------------------------------------------------------------------------------------------- rs7624950 Intergenic - ('sy') 'CT' MAF = 0.00000 Possibly 16% in Asia, 11% in Africa and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs7628687 Intergenic - ('t2') 'AG' MAF = 0.00868 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7630056 Intergenic - ('je') 'AG' MAF = 0.00914 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7632503 DRD3 dopamine receptor D3 - intron ('pc') 'AG' MAF = 0.00548 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7637797 ZNF501 zinc finger protein 501 - nearGene-5 ('nc') 'CT' MAF = 0.00868 Appears 8% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs7643078 ZBTB20 zinc finger and BTB domain containing 20 - intron ('cl') 'GT' MAF = 0.00822 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7648784 NAA50 N(alpha)-acetyltransferase 50, NatE catalytic subunit - UTR-3 ('lg') 'AC' MAF = 0.00548 The 1000 genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs7649384 EPHA6 EPH receptor A6 - intron ('mj') 'AG' MAF = 0.00776 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9819927 PLD1 phospholipase D1, phosphatidylcholine-specific - missense P49A ('kw') 'CG' MAF = 0.00914 Appears about 1% worldwide. The change P<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs9822071 MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 - intron ('s9') 'CT' MAF = 0.00914 Appears 8% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs9826032 PPP2R3A protein phosphatase 2, regulatory subunit B'', alpha - missense P74L ('cl') 'CT' MAF = 0.00411 Appears 2% in Europe and absent elsewhere. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs9827443 EXOSC7 exosome component 7 - intron ('s9') 'AG' MAF = 0.00776 Appears 5% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs9833334 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 - intron ('jv') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9842351 Intergenic - ('rz') 'AG' MAF = 0.00868 Maybe uncommon Europe & Asia, and 10% in Africa ---------------------------------------------------------------------------------------------------------------- rs9844280 Intergenic - ('eb') 'AG' MAF = 0.00959 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9847050 Intergenic - ('dm') 'AG' MAF = 0.00502 The 1000 genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9851020 ERC2 ELKS/RAB6-interacting/CAST family member 2 - intron ('ph') 'CT' MAF = 0.00502 Appears 6% in Africa and absent elsewhere. ------------------------------------------------------------------------------------------------------------- rs9856947 HHLA2 HERV-H LTR-associating 2 - intron ('ao') 'AC' MAF = 0.00914 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9860312 STAC SH3 and cysteine rich domain - intron ('ma') 'CT' MAF = 0.00868 Appears 9% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9861170 Intergenic - ('t2') 'AG' MAF = 0.00959 The 1000 Genome Project gives about 1%. ---------------------------------------------------------------------------------------------------------------- rs9863178 Intergenic - ('sj') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9863968 SPATA16 spermatogenesis associated 16 - unknown ('i') 'AG' MAF = 0.00365 Appears 3 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs9871937 LOC339862 uncharacterized LOC339862 - intron ('rp') 'GT' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9878297 Integenic - ('ny') 'AC' MAF = 0.00731 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10482612 NR3C1 nuclear receptor subfamily 3, group C, member 1 - UTR-5 ('jy') 'GT' MAF = 0.00137. Possibly 4% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10510479 TBC1D5 TBC1 domain family, member 5 - intron ('rp') 'AG' MAF = 0.00685 Appears 7% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs10935623 Intergenic - ('sh') 'CT' MAF = 0.00045 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs10935780 RNF13 ring finger protein 13 - intron ('wv') 'CT' MAF = 0.00594 Appears about 5% in Europe. ---------------------------------------------------------------------------------------------------------------- rs10936867 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 - intron ('vp') 'AG' MAF = 0.00822 The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11571843 CCK cholecystokinin - nearGene-5 ('kw') 'AG' MAF = 0.00457. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11571853 CCK cholecystokinin - intron ('lk') 'CT' MAF = 0.00228. Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11706153 CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 - intron ('pc') 'CT' MAF = 0.00594 Possibly 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11706176 Intergenic - ('lk') 'CT' MAF = 0.00914 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11711300 Intergenic - ('jk') 'GT' MAF = 0.00457 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11714141 IFRD2 interferon-related developmental regulator 2 - intron ('cm') 'CT' MAF = 0.00274 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11714911 CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 -intron ('ly') 'AG' MAF = 0.00639 Possibly 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11715850 CAMK1 calcium/calmodulin-dependent protein kinase I - intron ('cd') 'GT' MAF = 0.00045 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11719987 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 - intron ('cd') 'GT' MAF = 0.00959 Appears up to 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11721290 KY kyphoscoliosis peptidase - UTR-3 ('mf') 'AC' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11923229 Intergenic - ('ah') 'CT' MAF = 0.00868 Possibly 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11925282 Intergenic - ('ac') 'AG' MAF = 0.00411 Possibly 10% in Africa and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12489113 Intergenic - ('mh') 'CT' MAF = 0.00999 No population data. ---------------------------------------------------------------------------------------------------------------- rs12490341 NMD3 NMD3 homolog (S. cerevisiae) - missense E6K ('kw') 'AG' MAF = 0.00950 The change E<>K is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs12721225 AGTR1 angiotensin II receptor, type 1 - missense A244S ('za') 'GT' MAF = 0.00228 Uncommon 7 per 1000 worldwide. The change A<>S is uncommon, considering the amino acids are so similar. ?significance ---------------------------------------------------------------------------------------------------------------- rs12721258 AGTR1 angiotensin II receptor, type 1 - nearGene-5 ('en') 'CT' MAF = 0.00959 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs12721288 AGTR1 angiotensin II receptor, type 1 - intron ('gr') 'CT' MAF = 0.00502 Appears 3% in Europe and Africa, but absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs12721602 NR1I2 nuclear receptor subfamily 1, group I, member 2 - UTR-5 ('eb') 'AG' MAF = 0.00776 Possibly 8% in Europe and absent elsewhere. ('by') 'AA' ---------------------------------------------------------------------------------------------------------------- rs12721615 NR1I2 nuclear receptor subfamily 1, group I, member 2 - UTR-3 ('wv') 'AG' MAF = 0.00900 Appears about 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs13061336 DRD3 dopamine receptor D3 - intron ('kw') 'AG' MAF = 0.00776 Appears 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13062034 Intergenic - ('si') 'AG' MAF = 0.00639 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13064568 Intergenic - ('k') 'AC' MAF = 0.00959 Maybe 7% in Europe and lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13064618 Intergenic - ('bg') 'CT' MAF = 0.00228 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs13067518 STXBP5L syntaxin binding protein 5-like - intron ('bb') 'CT' MAF = 0.00822 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13071214 Intergenic - ('mj') 'CT' MAF = 0.00731 Appears 3% in Europe and 1% in Africa. ---------------------------------------------------------------------------------------------------------------- rs13071607 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 - nearGene-5 ('bi') 'GT' MAF = 0.00000 openSNP suggest 2%. ---------------------------------------------------------------------------------------------------------------- rs13081244 ISY1 ISY1 splicing factor homolog (S. cerevisiae) - intron ('k') 'CT' MAF = 0.00274 Uncommon. Maybe 1% in Europe and even less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13087457 MCM2 minichromosome maintenance complex component 2 - missense G501R ('gg') 'AG' MAF = 0.00228 Possibly 1% in Europe and absent elsewhere. The change G<>R is very uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs13094327 Intergenic - ('nt') 'AG' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13096071 Intergenic - ('mh') 'CT' MAF = 0.00776 Maybe 14% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13306156 Intergenic - ('rz') 'CT' MAF = 0.00000 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs13098532 CP ceruloplasmin (ferroxidase) - UTR-3 ('gb') 'GT' MAF = 0.00914 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13317079 ADCY5 adenylate cyclase 5 - UTR-3 ('ic') 'AC' MAF = 0.00959 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13317963 SLC51A organic solute transporter alpha - nearGene-5 ('na') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs16825548 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 - intron ('je') 'AG' MAF = 0.00914 Possibly 8% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs16829281 GFM1 G elongation factor, mitochondrial 1 - intron ('al') 'AG' MAF = 0.00959 Appears 7% in Africa, 1% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs16848392 Intergenic - ('vk') 'AG' MAF = 0.00182 Possibly 2% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16854837 Intergenic - ('rz') 'AC' MAF = 0.00594 Possib1y up to 10% in Africa. ---------------------------------------------------------------------------------------------------------------- rs17006305 Intergenic - 'AG' MAF = 0.00639 Appears 7% in Africa and absent elsewhere. ('q4') 'GG' ---------------------------------------------------------------------------------------------------------------- rs17029002 PPARG peroxisome proliferator-activated receptor gamma - nearGene-5 ('pa') 'CT' MAF = 0.00868 Maybe 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17036170 PPARG peroxisome proliferator-activated receptor gamma - intron ('za') 'AG' MAF = 0.00868 Possibly 1% in Europe, highest in Italy. ---------------------------------------------------------------------------------------------------------------- rs17043269 TBC1D5 TBC1 domain family, member 5 - intron ('rp') 'AG' MAF = 0.00685 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs17043847 TBC1D5 TBC1 domain family, member 5 - intron ('rp') 'GT' MAF = 0.00685 Appears 11% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs17043877 TBC1D5 TBC1 domain family, member 5 - intron ('rp') 'AC' MAF = 0.00685 Appears 10% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs17045387 Intergenic - ('mj') 'CT' MAF = 0.00457 Appears 1% in Europe and up to 6% in Africa. ---------------------------------------------------------------------------------------------------------------- rs17052097 DNAH1 dynein, axonemal, heavy chain 1 - missense R1663C ('aa') 'CT' MAF = 0.00776 Appears 2% in Asia and absent elsewhere. The change R<>C is uncommon and the homozygous from could be significant. ---------------------------------------------------------------------------------------------------------------- rs17052920 TKT transketolase - missense I189V ('kw') 'CT' MAF = 0.00137 Appears 1% in Europe and absent elsewhere. The change I<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17059569 FAM3D family with sequence similarity 3, member D - missense P60S ('wh') 'AG' MAF = 0.00228 Possibly 4% in Asia and absent elsewhere. The change P<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17070776 Intergenic - ('jm') 'CT' MAF = 0.00868 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17076541 TOPAZ1 chromosome 3 open reading frame 77 - missense Q483R ('na') 'AG' MAF = 0.00274 Appears 25 in Africa, 1% in Europe and absent from Asia. The change Q<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17076937 ZNF502 zinc finger protein 502 - intron ('nc') 'AG' MAF = 0.00868 Appears 11% in Africa, 4% in Europe and 1% in Asia. ---------------------------------------------------------------------------------------------------------------- rs17081036 SYN2 synapsin II - intron ('ph') 'AG' MAF = 0.00274 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17193729 Intergenic - ('gn','wv') 'AG' MAF = 0.00959 Appears 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17479823 Intergenic - ('i') 'CT' MAF = 0.00639 Maybe 2% in Italy, and absent outside Europe ---------------------------------------------------------------------------------------------------------------- rs17541405 IQSEC1 IQ motif and Sec7 domain 1 - missense V882I ('th') 'CT' MAF = 0.00411 Appears about 1% worldwide. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17595410 USP4 ubiquitin specific peptidase 4 (proto-oncogene) - synonymous S805S ('k') 'AG' MAF = 0.00274 Uncommon. Maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17621778 XRN1 5'-3' exoribonuclease 1 - UTR-3 ('md') 'CT' MAF = 0.00868 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17624976 KIAA1143 KIAA1143 - intron ('dm') 'CT' MAF = 0.00959 Appears 1% in Europe, higher in Asia and absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs17736455 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 - UTR-3 ('dm') 'AG' MAF = 0.00639 Possibly 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17778804 COL8A1 collagen, type VIII, alpha 1 - UTR-3 ('bn') 'CT' MAF = 0.00776 Appears 1-2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17786289 Intergenic - ('gn','wv') 'AG' MAF = 0.00914 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17787561 OR5H2 olfactory receptor, family 5, subfamily H, member 2 - missense R266C ('rz') 'CT' MAF = 0.00411 Possibly 1% in Europe and higher in other places. The change R<>C is uncommon and the homozygus form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17885517 IL5RA interleukin 5 receptor, alpha - UTR-5 ('kr') 'GT' MAF = 0.00228. Possibly 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28727939 Intergenic - ('sd') 'AC' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs28933390 BCHE butyrylcholinesterase - missense G418V (2) ('za') 'AC' MAF = 0.00300. Uncommon 7 per 1000 worldwide. The change G<>V is very uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34166957 C3orf18 chromosome 3 open reading frame 18 - nearGene-5 ('pa') 'AG' MAF = 0.00959 Maybe 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34197804 C3orf24 chromosome 3 open reading frame 24 - intron ('kr') 'AG' MAF = 0.00182 Around 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34364099 IFRD2 interferon-related developmental regulator 2 - missense Y280C ('st') 'CT' MAF = 0.00091 Appears about 6% in Italy, less elsewhere. The change Y<>C is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34421970 GLB1 galactosidase, beta 1 - missense L305F ('ma') 'AG' MAF = 0.00594 Possibly 2% worldwide. The change L<>F is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34548758 CASR calcium-sensing receptor - nearGene-5 ('k') 'CT' MAF = 0.00685 Poor data. maybe 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs34729751 DLG1 discs, large homolog 1 (Drosophila) - intron ('n1') 'GT' MAF = 0.00950 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs34791294 KIF15 kinesin family member 15 - synonymous E1037E ('nc') 'AG' MAF = 0.00411 Appears 8% in Africa and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34862960 KIF15 kinesin family member 15 - missense A211V ('ar') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34885143 BTD biotinidase - missense G45R ('lb') 'AG' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34911341 GHRL ghrelin/obestatin prepropeptide - unknown ('mj','kw') 'CT' MAF = 0.00500 Appears about 1% worldwide. See perhaps: http://www.ncbi.nlm.nih.gov/pubmed/20010782 ---------------------------------------------------------------------------------------------------------------- rs35032294 EPM2AIP1 EPM2A (laforin) interacting protein 1 - UTR-5 ('hu') 'CG' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35034250 BTD biotinidase - missense P391S ('kw') 'CT' MAF = 0.00868. Appears about 3% worldwide. The change P<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs35106713 GRM7 glutamate receptor, metabotropic 7 - synonymous S137S ('ls') 'CT' MAF = 0.00868 Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs35389318 RABL3 RAB, member of RAS oncogene family-like 3 - synonymous S87S (3) ('nn') 'AG' MAF = 0.00365. The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35725389 Intergenic - ('pa') 'AG' MAF = 0.00731 maybe 3% in Europe and less elsewhere. ('bg') 'GG' ---------------------------------------------------------------------------------------------------------------- rs35775946 STX19 syntaxin 19 - intron ('nr') 'CT' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35831931 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 - missense V475M ('gg') 'AG' MAF = 0.00045 Appears 1 per 1000 worldwide. The change V<>M is common and unlkely to be significant. ---------------------------------------------------------------------------------------------------------------- rs36038704 RPL15 ribosomal protein L15 - intron ('ma') 'AG' MAF = 0.00228. Appears 4% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs41261344 SCN5A sodium channel, voltage-gated, type V, alpha subunit - missense R1192Q ('mi') 'CT' MAF = 0.00950 An uncommon SNP. The change R<>Q is uncommon and the homozygous form could be significant. May be associated with Brugada syndrome. http://omim.org/entry/600163#600163Variants0023;%20600163 ---------------------------------------------------------------------------------------------------------------- rs41267007 PROS1 protein S (alpha) - missense R233K (2) ('ml') 'CT' MAF = 0.00200 The 1000 Genome Project gives 2 per 1000. The change R<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41276525 SCN5A sodium channel, voltage-gated, type V, alpha subunit - missense S216L ('ri') 'AG' MAF = 0.00000 An uncommon SNP. The change S<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41289628 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 - missense V494I ('ai') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs41294980 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) - missense S406N (2) ('lj') 'AG' MAF = 0.00045 The 1000 Genome Project gives 1 per 2,200. The change S<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41313697 SCN5A sodium channel, voltage-gated, type V, alpha subunit - missense L461V (1) ('ml') 'AC' MAF = 0.00300 The 1000 Genome Project gives 3 per 1000. The change L<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs45598538 GATA2 GATA binding protein 2 - UTR-3 ('er') 'AG' MAF = 0.00274. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs45489199 SCN5A sodium channel, voltage-gated, type V, alpha subunit - missense P2005A ('sg') 'CG' MAF = 0.00000 openSNP suggest 1%. The change P<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs72546668 CAV3 caveolin 3 - missense T78M ('mj') 'CT' MAF = 0.00400 The 1000 Genome Project gives 4 per 1000. The change T<>M is common and not usually significant. BUT see: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359497/ Possibly associated with 'Rippling Muscle Disease and Proximal Myopathy. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------