Chromosome 17
Chromosome 16 << >> Chromosome 18Back
---------------------------------------------------------------------------------------------------------------- Summary of data No data = 0 Rare SNPs = 220 Minor Allele Frequency >0 and <0.01 = 1377 Minor Allele Frequency >=0.01 and <0.02 = 615 Minor Allele Frequency >=0.02 and <0.03 = 570 Minor Allele Frequency >=0.03 and <0.05 = 1149 Minor Allele Frequency >=0.05 and <0.5 = 22328 Total of SNPs = 26259 There are also 371 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - FTDNA Total of common SNPs = There are also xxx unique SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Persons:- 'an' (email: pma_851[at]hotmail[dot]com) <0.01 rs11571365 at Chr17:6854579 gave 'CT' The minor allele is 'T' with a MAF = 0.00914 rs12451811 at Chr17:37358181 gave 'CT' The minor allele is 'T' with a MAF = 0.00959 ---------------------------------------------------------------------------------------------------------------- Person:- 'b' <0.01 ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs60831116 at Chr17:36996559 gave 'GT' The minor allele is 'T' with a MAF = 0.00999 rs11651306 at Chr17:39241297 gave 'CC' The minor allele is 'C' with a MAF = 0.00594 rs11651676 at Chr17:39316917 gave 'GG' The minor allele is 'G' with a MAF = 0.00594 rs3744456 at Chr17:41327970 gave 'CG' The minor allele is 'G' with a MAF = 0.00999 rs8081716 at Chr17:48876832 gave 'CT' The minor allele is 'C' with a MAF = 0.00999 rs4988343 at Chr17:57281427 gave 'CT' The minor allele is 'T' with a MAF = 0.00776. ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01: rs8081028 at Chr17:25547440 gave 'AA' The minor allele is 'A' with a MAF = 0.00900 rs63750742 at Chr17:39782157 gave 'CT' The minor allele is 'T' with a MAF = 0.00091 rs3744456 at Chr17:41327970 gave 'CG' The minor allele is 'G' with a MAF = 0.00999 rs8081716 at Chr17:48876832 gave 'CT' The minor allele is 'C' with a MAF = 0.00999 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs914 TRIM37 tripartite motif containing 37 - UTR-3 ('jr') 'CT' MAF = 0.00091 The 1000 genome Project gives about 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs5388 GH1 growth hormone 1 - unknown ('gb') 'CT' MAF = 0.00274. Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs6258 SHBG sex hormone-binding globulin - missense P185L ('mh') 'CT' MAF = 0.00548 Maybe 3% in Europe. The change P<>L is fairly uncommon, but unlikely to be harmful. ---------------------------------------------------------------------------------------------------------------- rs6355 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin) - missense G56A ('sk') 'CG' MAF = 0.00639 Appears 5% in Europe and absent elsewhere. The change G<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs197908 Intergenic - ('bg') 'CT' MAF = 0.00800 Appears 48% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs659497 NAGLU N-acetylglucosaminidase, alpha - synonymous S141S ('di') 'CT' MAF = 0.00228 Possibly 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs739799 Intergenic - ('eb') 'CT' MAF = 0.00639 Maybe 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs877296 Intergenic - ('jj') 'CT' MAF = 0.00731 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs929223 SPPL2C signal peptide peptidase like 2C - Missense E209K ('eb') 'AG' MAF = 0.00731 Possibly 2% worldwide. The change E<>K is uncommon and could be significant. ---------------------------------------------------------------------------------------------------------------- rs939346 NR1D1 nuclear receptor subfamily 1, group D, member 1 - intron ('sk') 'AG' MAF = 0.00502 Possibly 1% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1017089 HSF5 heat shock transcription factor family member 5 - missense N329T ('mj') 'GT' MAF = 0.00500 Possibly 1% in Europe and Africa and 2% in Asia. The change N<>T is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs1529844 GRB2 growth factor receptor-bound protein 2 - intron ('cd') 'CT' MAF = 0.00868. Uncommon in Europe, possibly 1-6% in Asia and Africa. ---------------------------------------------------------------------------------------------------------------- rs1799965 BRCA1 breast cancer 1, early onset - synonymous C197C ('af') 'AG' MAF = 0.00045. The 1000 Genome Project gives 1 per 2500. ---------------------------------------------------------------------------------------------------------------- rs1799967 BRCA1 breast cancer 1, early onset - missense M1652I ('dm') 'CT' MAF = 0.00914. Appears about 2% worldwide. The change M<>I is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs1800372 TP53 tumor protein p53 - synonymous R174R ('si') 'C' with a MAF = 0.00685. Appears about 2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs1800709 BRCA1 breast cancer 1, early onset - missense R794W ('wh') 'AG' MAF = 0.00900. Possibly 1% in Europe and Asia, but absent from Africa. The change R<>W is uncommon and the homozygous form could be significant. In 1996 linked to breast disease. See: http://www.ncbi.nlm.nih.gov/pubmed/8968716 ---------------------------------------------------------------------------------------------------------------- rs2020941 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin) - intron ('th') 'CT' MAF = 0.00548. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2058284 Intergenic - ('lr') 'CT' MAF = 0.00502 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2232840 RASD1 RAS, dexamethasone-induced 1 - missense S199G ('jf') 'CT' MAF = 0.00999 An uncommon SNP. The change S<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2243110 GP1BA glycoprotein Ib (platelet), alpha polypeptide - nearGene-3 ('bb') 'AG' MAF = 0.00274 Appears absent in Europe, present in Africa and Asia. ---------------------------------------------------------------------------------------------------------------- rs2292969 TBCD tubulin folding cofactor D - unknown ('a','eb') 'CT' MAF = 0.00457 Maybe 9% in Europe and Asia, low in Africa. ---------------------------------------------------------------------------------------------------------------- rs2304942 CUEDC1 CUE domain containing 1 - missense P205S ('jy') 'AG' MAF = 0.00091 Appears 4% in Asia and 1% elsewhere. The change P<>S is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2465436 Intergenic - ('mj') 'AG' MAF = 0.00274 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2518024 PER1 period homolog 1 (Drosophila) - intron ('oi') 'CT' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2678672 FAM100B family with sequence similarity 100, member B - nearGene-5 ('hs') 'AG' MAF = 0.00274 Uncommon, possibly 2% in Italy. ---------------------------------------------------------------------------------------------------------------- rs2727338 GH1 growth hormone 1 - intron ('r') 'AG' MAF = 0.00868 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs2949935 PITPNC1 phosphatidylinositol transfer protein, cytoplasmic 1 - intron ('dd') 'CT' MAF = 0.00822. Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3093724 POLDIP2 polymerase (DNA-directed), delta interacting protein 2 - UTR-3 ('ly') 'CT' MAF = 0.00137 Possibly 11% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3730014 NOS2 nitric oxide synthase 2, inducible - synonymous A31A ('bc') 'AG' MAF = 0.00411. Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3730025 ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 - missense Y244C ('r') 'AG' MAF = 0.00776 Maybe 1-2% in Europe, absent elsewhere. The change Y<>C is uncommon, and this SNP is worth watching. ---------------------------------------------------------------------------------------------------------------- rs3730044 ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 - synonymous V984V (3) ('jt') 'AG' MAF = 0.00457 Uncommon, worldwide frequency 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs3744649 ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15 - UTR-3 ('ap'-FTDNA) 'GT' MAF = 0.00731 Maybe 10% in Asia, and very uncommon in Europe. ---------------------------------------------------------------------------------------------------------------- rs3809740 RANGRF RAN guanine nucleotide release factor - synonymous D27D ('oi') 'CT' MAF = 0.00548 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3900906 TUBD1 tubulin, delta 1 - intron ('ly') 'GT' MAF = 0.00822. Possibly 8% in Africa, 2% in Asia and absent in Europe. ---------------------------------------------------------------------------------------------------------------- rs3730043 ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 - missense T342M ('jw') 'CT' MAF = 0.00594 Appears 1% worldwide. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs3744267 FXR2 fragile X mental retardation, autosomal homolog 2 - synonymous L302L ('kd') 'CT' MAF = 0.00000. Appears 1% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3785913 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 - intron ('sy') 'CT' MAF = 0.00548. Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4073026 CSNK1D casein kinase 1, delta - nearGene-5 ('si') 'AC' MAF = 0.00822. Uncommon. No population data. ---------------------------------------------------------------------------------------------------------------- rs4135012 CDC6 cell division cycle 6 homolog (S. cerevisiae) - unknown ('a','eb') 'AG' MAF = 0.00776 Maybe 4% in Europe and Asia, low in Europe. ---------------------------------------------------------------------------------------------------------------- rs4988343 BRIP1 BRCA1 interacting protein C-terminal helicase 1 - intron ('i') 'CT' MAF = 0.00776 Perhaps 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4988345 BRIP1 BRCA1 interacting protein C-terminal helicase 1 - missense R173C (1) ('bb') 'AG' MAF = 0.00319. Possibly 2% in Europe and Asia, absent in Africa. The mutation R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4988346 BRIP1 BRCA1 interacting protein C-terminal helicase 1 - missense V13I ('cd') 'CT' MAF = 0.005. Appears about 1% in Europe. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs63751443 MAPT microtubule-associated protein tau - intron ('ai') 'AG' MAF = 0.00999 openSNP suggest 1%. ---------------------------------------------------------------------------------------------------------------- rs7209696 USP32 ubiquitin specific peptidase 32 - intron ('tg') 'AG' MAF = 0.00999 Possibly up to 8% in Europe. ('sa') 'AA' ---------------------------------------------------------------------------------------------------------------- rs7217909 Intergenic - ('hs') 'CT' MAF = 0.00868 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs733800 SHISA6 shisa homolog 6 (Xenopus laevis) - intron ('gr') 'AG' MAF = 0.00639. Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8068953 Intergenic - ('gg') 'CT' MAF = 0.00959 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8077711 STXBP4 syntaxin binding protein 4 - intron ('dd') 'AG' MAF = 0.00822 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8081028 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin) - intron ('r') 'AC' MAF = 0.009 In Europe 1-2%, very much higher in Africa & Asia. ('k','st') 'AA' Even lower in Europe. ---------------------------------------------------------------------------------------------------------------- rs8176135 BRCA1 breast cancer 1, early onset - intron ('nc') 'AG' MAF = 0.00000. An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs8176320 BRCA1 breast cancer 1, early onset - UTR-3 ('bb') 'CT' MAF = 0.00502. Possibly 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs8178899 APOH apolipoprotein H (beta-2-glycoprotein I) - nearGene-5 ('dd') 'GT' MAF = 0.00914. Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9890038 ACACA acetyl-CoA carboxylase alpha - intron ('eb') 'AG' MAF = 0.00365 Poor data, but possilby 10% in Italy. ---------------------------------------------------------------------------------------------------------------- rs9890964 MINK1 misshapen-like kinase 1 - intron ('ch') 'AG' MAF = 0.00914 Appears 7% in Europe and absent elsewhere. ('zl') 'AA' ---------------------------------------------------------------------------------------------------------------- rs9894385 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase - UTR-3 ('vp') 'CT' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9898857 Intergenic - ('m2') 'CT' MAF = 0.00000 Appears 40% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9907298 Intergenic - ('je') 'CT' MAF = 0.00822 Appears 7% in Africa 2% in Asia and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs9907340 RGS9 regulator of G-protein signaling 9 - intron ('ti') 'CT' MAF = 0.00548 Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9913351 Intergenic - ('dd') 'CT' MAF = 0.00000 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9914953 Intergenic - ('jf') 'AG' MAF = 0.00822 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9944489 LINC00673 uncharacterized LOC100499467 - intron ('q4') 'CT' MAF = 0.00685 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10305278 IGFBP4 insulin-like growth factor binding protein 4 - intron ('a') 'GT' MAF = 0.00731 Maybe 7% in Europe, much lower eslewhere. ---------------------------------------------------------------------------------------------------------------- rs10432005 METRNL meteorin, glial cell differentiation regulator-like - intron ('ap'-FTDNA) 'CT' MAF = 0.00274 Maybr 1% in Europe and Africa, and 9% in Asia. ---------------------------------------------------------------------------------------------------------------- rs11538131 RPL27 ribosomal protein L27 - synonymous L60L ('bn') 'AG' MAF = 0.00400 Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11553545 RHBDF2 rhomboid 5 homolog 2 (Drosophila) - missense D528Y ('ab') 'AC' MAF = 0.00228. Appears about 5% in Europe and Asia. The change D<>Y is uncommon and hte homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11568589 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 - synonymous L1336L ('il') 'AG' MAF = 0.00400 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11568605 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 - missense S346F ('ai') 'CT' MAF = 0.00457 The 1000 Genome Project gives 4 per 1000. The change S<>F is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs11571365 ALOX12 arachidonate 12-lipoxygenase - UTR-3 ('mf') 'CT' MAF = 0.00914 Maybe 8% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11575044 Intergenic - ('si') 'AG' MAF = 0.00182. Uncommon. No population data. ---------------------------------------------------------------------------------------------------------------- rs11575053 Intergenic - ('mg') 'AG' MAF = 0.00731 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11649842 SSH2 slingshot homolog 2 (Drosophila) - intron ('vt') 'AC' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs11650909 USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene) - intron ('bm-FTDNA') 'TC' MAF = 0.00600 Limited data. Maybe 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs11651306 MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) - intron 'AC' MAF = 0.00594 In Europe about 9%, absent elsewhere. ('i') 'CC' Even lower in Europe. ---------------------------------------------------------------------------------------------------------------- rs11651676 MPP2 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) - intron ('pz') 'AG' MAF = 0.00594 In Europe 1%, absent elsewhere. ('i') 'GG' Even lower in Europe. ---------------------------------------------------------------------------------------------------------------- rs11651876 C17orf39 chromosome 17 open reading frame 39 - intron ('hu') 'AG' MAF = 0.00319 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11652107 KCNH4 potassium voltage-gated channel, subfamily H (eag-related) - intron ('mf') 'AC' MAF = 0.00000 An uncommon SNP ---------------------------------------------------------------------------------------------------------------- rs11652284 Intergenic - ('jt') 'AG' MAF = 0.00868 Appears 4% in Europe, absent elsewhere. A European SNP. ---------------------------------------------------------------------------------------------------------------- rs11655238 NF1 neurofibromin 1 - intron ('jj') 'AG' MAF = 0.00685 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11656317 Intergenic - ('a') 'CT' MAF = 0.00319 Maybe 2% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11656500 DNAH2 dynein, axonemal, heavy chain 2 - missense R2548H (2) (ot') 'AG' MAF = 0.00319 Appears 6% in Europe, 2% in Asia and 1% in Africa. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11657641 FAM222B chromosome 17 open reading frame 63 - UTR-3 ('ma') 'CT' MAF = 0.00228 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11657647 Intergenic - ('cd') 'AG' MAF = 0.00959 Possibly 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11658164 MYH2 myosin, heavy chain 2, skeletal muscle, adult - missense S1043A ('dh') 'AC' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. The change S<>A is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11658233 TLCD1 TLC domain containing 1 - nearGene-5 ('cl') 'AC' MAF = 0.00548 Possibly 2% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11658898 Intergenic - ('r') 'AG' MAF = 0.006 Poor population data. ---------------------------------------------------------------------------------------------------------------- rs11869580 Intergenic - ('tg') 'AG' MAF = 0.00914 Possibly 11% in Europe and much less elsewhere. ('jw') 'AA' ---------------------------------------------------------------------------------------------------------------- rs12150166 EFCAB3 EF-hand calcium binding domain 3 - synonymous V49V ('or') 'AC' MAF = 0.00500 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12150245 DCAF7 DDB1 and CUL4 associated factor 7 - intron ('ja') 'CT' MAF = 0.00228 Maybe 3% in Europe and much lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12325826 Intergenic - ('cl') 'AG' MAF = 0.00502 Appears 2% in Europe and absent elsewhere. ('ic') 'AA' ---------------------------------------------------------------------------------------------------------------- rs12451811 TTC25 tetratricopeptide repeat domain 25 - intron ('vg') 'CT' MAF = 0.00959 Very rare in Europe, an Asian marker. ---------------------------------------------------------------------------------------------------------------- rs12453256 TAT5A signal transducer and activator of transcription 5A - intron ('af') 'AG' MAF = 0.00685 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12939354 Intergenic - ('cl') 'GT' MAF = 0.00900 Appears 13% in Africa and much less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12940938 Intergenic - ('f0') 'AG' MAF = 0.00548 Possibly up to 6% in Europe, and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12944385 RNF213 ring finger protein 213 - unknown ('dm') 'AG' MAF = 0.00228 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12944067 Intergenic - ('ar') 'AG' MAF = 0.00319 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12945128 SMG8 smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) - synonymous P85P ('cc') 'CT' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12946582 RPTOR regulatory associated protein of MTOR, complex 1 - intron ('cm') 'CT' MAF = 0.00731 Possibly 26% in Asia, 12% in Africa, absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs12945560 MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) - intron ('nb') 'CT' MAF = 0.00685 Appears 9% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12949990 ZZEF1 zinc finger, ZZ-type with EF-hand domain 1 - intron ('jt') 'AG' MAF = 0.00639 Appears 5% in Europe, absent elsewhere. A European SNP. ---------------------------------------------------------------------------------------------------------------- rs12951039 ALDH3A1 aldehyde dehydrogenase 3 family, member A1 - intron ('je') 'CT' MAF = 0.00685 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16940655 CRHR1 corticotropin releasing hormone receptor 1 - missense A60V ('r','eb') 'CT' MAF = 0.00091 Poor population data. Maybe 1-2% in Europe. The change 'A<>V is common, and not considered to be harmful ---------------------------------------------------------------------------------------------------------------- rs16955204 Intergenic - ('cl') 'AG' MAF = 0.00914 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs16955851 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 - missense Y74F ('ae') 'AT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. The change Y<>F is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17582112 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 - nearGene-3 ('ab') 'AG' MAF = 0.00776 Possibly 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17590785 CA10 carbonic anhydrase X - intron ('p') 'AG' MAF = 0.00548 maybe 6% in Europe, and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17614694 Intergenic - ('jn') 'CT' MAF = 0.00776 Appears up to 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17678817 MSL1 male-specific lethal 1 homolog (Drosophila) - intron ('a','eb') 'CT' MAF = 0.00776 Maybe 3% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17679086 CASC3 cancer susceptibility candidate 3 - intron ('a','eb') 'AG' MAF = 0.00776 Maybe 4% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17679361 WIPF2 WAS/WASL interacting protein family, member 2 - intron ('a','eb') 'CT' MAF = 0.00776 Maybe 4% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17683185 Intergenic - ('ma') 'AC' MAF = 0.00045 Appears 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17720850 NEK8 NIMA (never in mitosis gene a)- related kinase 8 - intron ('gr') 'CT' MAF = 0.00228 Appears 2% in Europe, and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17736841 CD300LG CD300 molecule-like family member g - UTR-3 ('kr') 'AG' MAF = 0.00457 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17806333 SHMT1 serine hydroxymethyltransferase 1 (soluble) - intron ('bb') 'CT' MAF = 0.00868 Possibly 4% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17880604 TP53 tumor protein p53 - intron ('wv') 'CG' MAF = 0.00999 Appears 1-2% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17880847 TP53 tumor protein p53 - intron 'AT' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. ('en') 'AA' 'RARE' ---------------------------------------------------------------------------------------------------------------- rs17881850 TP53 tumor protein p53 - intron ('mr') 'AG' MAF = 0.00457. The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs17884251 CDK3 cyclin-dependent kinase 3 - missense M264T ('jh') 'CT' MAF = 0.00365 Appears about 2% in Europe. The change M<>T is common and this SNP is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17887014 NF1 neurofibromin 1 - synonymous K1724K ('jj') 'AG' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. ---------------------------------------------------------------------------------------------------------------- rs2285644 SLC4A1 solute carrier family 4, anion exchanger, member 1 - missense P854L ('de') 'AG' MAF = 0.00900. Appears 3% in Asia, and 1% in Africa and Europe. The change P<>L is uncommon and the homozygous form could be significant. Associated with the Diego blood group. ---------------------------------------------------------------------------------------------------------------- rs2471736 MAPT microtubule-associated protein tau - intron ('pz') 'AG' MAF = 0.00457. Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28363255 RAD51D RAD51 homolog D (S. cerevisiae) - nearGene-5 ('af') 'AG' MAF = 0.00228. The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28363284 RAD51D RAD51 homolog D (S. cerevisiae) - missense E253G ('wv') 'CT' MAF = 0.00594. Appears about 2% worldwide. The change E<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28363294 RAD51D RAD51 homolog D (S. cerevisiae) - UTR-3 ('kw') 'CT' MAF = 0.00548. Possibly about 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs28582882 SLC5A10 solute carrier family 5 (sodium/glucose cotransporter) - synonymous S404S ('tm') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs28730837 MPO myeloperoxidase - missense A332V ('mb') 'AG' MAF = 0.00800. Appears 1% worldwide. ('jv') 'AA' The change A<>V is common and unlikely to be significant. But see: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2897047/pdf/nihms205864.pdf ---------------------------------------------------------------------------------------------------------------- rs28897689 BRCA1 breast cancer 1, early onset - unknown ('mj') 'CT' MAF = 0.00045. Appears about 7 per 1000 worldwide. ---------------------------------------------------------------------------------------------------------------- rs28914814 CCL5 chemokine (C-C motif) ligand 5 - UTR-3 ('gg') 'CT' MAF = 0.00457. Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28914827 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin) - intron ('sk') 'CT' MAF = 0.00639. The 1000 Genome Project gives 6 per 1000. ---------------------------------------------------------------------------------------------------------------- rs28914832 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin) - missense I425L ('jl') 'GT' MAF = 0.00999 Appears 1 per 1000 worldwide. The change I<>L is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34126458 ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 - missense A319S ('zn') 'GT' MAF = 0.00091. An uncommon SNP. No further data. The change A<>S is uncommon and the heterozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34165480 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic - missense A1637V ('nj') 'AG' MAF = 0.00091. Appears under 1% worldwide. The A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34248115 PSMD11 proteasome (prosome, macropain) 26S subunit - synonymous K295K ('bc') 'AG' MAF = 0.00182. Appears about 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs34399035 SLC47A2 solute carrier family 47, member 2 - missense G393R ('ar') 'CT' MAF = 0.00365 The 1000 Genome Project gives 3 per 1000. The change G<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34456085 COIL coilin - intron ('sk') 'AG' MAF = 0.00137 Possibly about 1% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs34489987 UNC119 unc-119 homolog (C. elegans) - nearGene-5 ('sm') 'CT' MAF = 0.00200 The 1000 Genome Project give 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs34792609 CD300LF CD300 molecule-like family member f - intron ('bc') 'AG' MAF = 0.00091 The 1000 GenomeProject gives about 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35420920 RANGRF RAN guanine nucleotide release factor - UTR-3 ('sh') 'AG' MAF = 0.00182. The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs35668234 Intergenic - ('kw') 'AG' MAF = 0.00365 Possibly about 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35874481 SCARF1 scavenger receptor class F, member 1 - nearGene-3 ('jp') 'AG' MAF = 0.00731 Appears to be about 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35952774 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal - missense V894I ('cv') 'CT' MAF = 0.00999 An uncommon SNP. No further data. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs36019593 ZNF207 zinc finger protein 207 - unspecified ?407? ('dx') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs36080296 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) - missense L66R ('ao') 'GT' MAF = 0.00228 The 1000 Genome Project gives 2 per 1000. The change L<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs41280102 SCN4A sodium channel, voltage-gated, type IV, alpha subunit - missense S906T ('wv') 'CG' MAF = 0.00999 Possibly appears about 1%. The change S<>T is fairly common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs41419545 FLCN folliculin - missense A455T ('si') 'CT' MAF = 0.00300 Appears about 3-6 per 1000 worldwide. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs45562031 SLC4A1 solute carrier family 4, anion exchanger, (Diego blood group) - missense E40K ('en') 'CT' MAF = 0.00999 Possibly appears 2% worldwide. The change E<>K is uncommon and the homozygous form could be significant. Possibly associated with 'Spherocytosis'. See: http://omim.org/entry/109270#109270Variants0004 ---------------------------------------------------------------------------------------------------------------- rs55819519 TP53 tumor protein p53 - missense R290H (2) ('gg') 'CT' MAF = 0.00999 An uncommon SNP. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs55916807 NFRSF13B tumor necrosis factor receptor superfamily, member 13B - missense R72H ('gh') 'CT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. The change R<>H is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs56378716 MPO myeloperoxidase - missense M251T ('jh') 'AG' MAF = 0.00700. Appears about 1% worldwide. The change M<>T is common and this SNP is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs57474185 GFAP glial fibrillary acidic protein - missense P47L ('be') 'AG' MAF = 0.00999 Possibly 1% worldwide. The change P<>L is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs58536923 Intergenic - ('di') 'CT' MAF = 0.00999 Uncommon. No further details. ---------------------------------------------------------------------------------------------------------------- rs60831116 KRT14 keratin 14 - missense C18X ('i','en') 'GT' MAF = 0.00999 Possibly about 5% in Europe. The change C<>X truncates the protein and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61749668 GUCY2D guanylate cyclase 2D, membrane (retina-specific) - missense E103K (1) ('ct') 'AG' MAF = 0.00999 An uncommon SNP. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs61749682 GUCY2D guanylate cyclase 2D, membrane (retina-specific) - missense L513F ('bc') 'CT' MAF = 0.00045 Appears 2 per 1000 worldwide. The change L<>F is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs62070884 SCN4A sodium channel, voltage-gated, type IV, alpha subunit - missense V781I ('jt') 'CT' MAF = 0.00914 Poor population data The change V<>I is very common and normally harmless. ---------------------------------------------------------------------------------------------------------------- rs62619924 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 - missense V96I ('a') 'CT' MAF = 0.00776 Maybe 3% worldwide, and lower in Europe. The change V<>I is common and not usually harmful. ---------------------------------------------------------------------------------------------------------------- rs62637017 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 - synonymous H109H ('md') 'AG' MAF = 0.00999 openSNP suggest 1%. ---------------------------------------------------------------------------------------------------------------- rs63750142 GRN granulin - synonymous S301S ('dd') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs63750742 GRN granulin - synonymous D33D ('k') 'CT' MAF = 0.00091 Worldwide 0.5%. ---------------------------------------------------------------------------------------------------------------- rs72547577 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 - missense L426X ('mi') 'GT' MAF = 0.00999 openSNP suggest 3%. ('kw') 'GG' The change L<>X truncates the protein and could be significant. Mutations in this gene may be associated with 'Sjögren-Larsson syndrome (SLS)'. ---------------------------------------------------------------------------------------------------------------- rs72553883 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B - missense A181E ('or') 'GT' MAF = 0.00999 An uncommon SNP. The change A<>E is uncommon and the homozygous form could be significant. Associated with Immunodeficiency, see: http://www.ncbi.nlm.nih.gov/pubmed/16007086 ---------------------------------------------------------------------------------------------------------------- rs72645326 COL1A1 collagen, type I, alpha 1 - intron ('mi') 'DI' MAF = 0.00999 An uncommon deletion. ---------------------------------------------------------------------------------------------------------------- rs72648314 COL1A1 collagen, type I, alpha 1 - missense G380V ('ds') 'AC' MAF = 0.00999 Possibly 1% in Europe. The change G<>V is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs72667032 COL1A1 collagen, type I, alpha 1 - missense P205A ('f0') 'CG' MAF = 0.00182 Appears 7 per 1000 worldwide. The change P<>A is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Note: A MAF = 0.00950 indicates the frequency is probably under 0.01 A MAF = 0.00999 indicates there is no population data for this SNP