Chromosome 13
Chromosome 12 << >> Chromosome 14Back
---------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe - 'Chromosome 13a rs2762261 - rs9530270' No data = 0 Rare SNPs = 52 Minor Allele Frequency >0 and <0.01 = 236 Minor Allele Frequency >=0.01 and <0.02 = 431 Minor Allele Frequency >=0.02 and <0.03 = 512 Minor Allele Frequency >=0.03 and <0.05 = 977 Minor Allele Frequency >=0.05 and <0.5 = 17789 Total of SNPs = 19997 There are also 86 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe - 'Chromosome 13b rs7989171 - rs17067959' No data = 0 Rare SNPs = 83 Minor Allele Frequency >0 and <0.01 = 192 Minor Allele Frequency >=0.01 and <0.02 = 379 Minor Allele Frequency >=0.02 and <0.03 = 410 Minor Allele Frequency >=0.03 and <0.05 = 721 Minor Allele Frequency >=0.05 and <0.5 = 14146 Total of SNPs = 15931 There are also 58 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - FTDNA - 'Chromosome 13a rs2762261 - rs9530270' No data = 0 Rare SNPs = 33 Minor Allele Frequency >0 and <0.01 = 135 Minor Allele Frequency >=0.01 and <0.02 = 372 Minor Allele Frequency >=0.02 and <0.03 = 427 Minor Allele Frequency >=0.03 and <0.05 = 707 Minor Allele Frequency >=0.05 and <0.5 = 13154 Total of common SNPs = 14828 There are also 594 unique SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - FTDNA - 'Chromosome 13b rs7989171 - rs17067959' No data = 0 Rare SNPs = 67 Minor Allele Frequency >0 and <0.01 = 165 Minor Allele Frequency >=0.01 and <0.02 = 342 Minor Allele Frequency >=0.02 and <0.03 = 345 Minor Allele Frequency >=0.03 and <0.05 = 565 Minor Allele Frequency >=0.05 and <0.5 = 10553 Total of common SNPs = 12037 There are also 492 unique SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs9603498 at Chr13:38516302 gave 'GT' The minor allele is 'G' with a MAF = 0.00776 ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs9516949 at Chr13:86830491 gave 'AG' The minor allele is 'A' with a MAF = 0.00502 ---------------------------------------------------------------------------------------------------------------- Person:- 'k' (email withheld) <0.01: ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs5352 EDNRB endothelin receptor type B - unknown ('ss') 'CT' MAF = 0.00800. Possibly 1% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6309 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled - intron ('vp') 'AG' MAF = 0.00959. Appears 15% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs169001 PCDH9 protocadherin 9 - intron ('lp') 'CT' MAF = 0.00502. Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs238263 Intergenic - ('jo') 'AG' MAF = 0.00959. Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs259729 LRRC63 leucine rich repeat containing 63 - intron ('rz') 'AG' MAF = 0.00914 Possibly 6% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs383108 Intergenic - ('lj') 'AG' MAF = 0.00548. Appears 7% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs408007 AKAP11 A kinase (PRKA) anchor protein 11 - synonymous A1648A ('jo') 'AG' MAF = 0.00457 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs588383 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 - intron ('jo') 'AG' MAF = 0.00000 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs799053 FRY furry homolog (Drosophila) - intron ('er') 'CT' MAF = 0.00685 No other population data. ---------------------------------------------------------------------------------------------------------------- rs842381 Intergenic - ('dx') 'CT' MAF = 0.00091. The 1000 Genome Project gives 1 per 1100. ---------------------------------------------------------------------------------------------------------------- rs1005976 Intergenic - ('vp') 'AG' MAF = 0.00502. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1326407 Intergenic - ('bg') 'AG' MAF = 0.00822 Appears 10% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1678408 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('cy') 'AC' MAF = 0.00228 Appears 4% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1729744 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('dh') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs1799952 BRCA2 breast cancer 2, early onset - synonymous S1172S ('mn') 'AG' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1799954 BRCA2 breast cancer 2, early onset - missense R2034C ('cv') 'CT' MAF = 0.00137 Possibly 3% in Europe, 2% in Asia and absent from Africa. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs1980793 RNF219 ring finger protein 219 - intron ('na') 'CT' MAF = 0.00776. Appears 12% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2227122 KL klotho - intron ('a') 'GT' MAF = 0.00502 Maybe 2% Europe, and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2274083 GJB2 gap junction protein, beta 2, 26kDa - missense E114G ('je') 'CT' MAF = 0.00000 Appears up to 48% in Asia, but absent in Europe and Africa. The change E<>G is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2274084 GJB2 gap junction protein, beta 2, 26kDa - missense V27I ('er') 'CT' MAF = 0.00000 Very high in Asia, but absent in Europe and Africa. The change V<>I is common and not usually significant. ---------------------------------------------------------------------------------------------------------------- rs2274827 SLC15A1 solute carrier family 15 (oligopeptide transporter) - missense R459C ('sy') 'AG' MAF = 0.00776 Appears 12% in Asia and 1% elsewhere. The change R<>C is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2303965 MYO16 myosin XVI - synonymous L973L ('jn') 'CT' MAF = 0.00868. Appears 1% worldwide. ---------------------------------------------------------------------------------------------------------------- rs2325485 PIBF1 progesterone immunomodulatory binding factor 1 - intron ('na') 'AG' MAF = 0.00365. Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2387856 FLT1 fms-related tyrosine kinase 1 - synonymous F135F ('jy') 'AG' MAF = 0.00685 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2408657 SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) - UTR-3 ('sp') 'AG' MAF = 0.00776 Maybe 1% in Europe and higher in Africa. ---------------------------------------------------------------------------------------------------------------- rs2812230 Intergenic - ('sl') 'CT' MAF = 0.00639 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs2997183 Intergenic - ('jo') 'AG' MAF = 0.00594 Appears 1% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3093266 F7 coagulation factor VII (serum prothrombin conversion accelerator) - intron ('r') 'CT' MAF = 0.00228 Appears to be 5% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3212996 F10 coagulation factor X - intron ('lz') 'CT' MAF = 0.00776 Maybe 5% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3764522 ZNF828 chromosome alignment maintaining phosphoprotein 1 - missense L568V (1) (298) 'CG' MAF = 0.00319 Maybe 2% in Asia and absent elsewhere. The change L<>V is surprisingly uncommon; so possibly significant when homozygous. ---------------------------------------------------------------------------------------------------------------- rs3803187 CYSLTR2 cysteinyl leukotriene receptor 2 - UTR-3 ('mi') 'GT' MAF = 0.00822. Appears 7% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3809374 CKAP2 cytoskeleton associated protein 2 - synonymous L334L ('st') 'AG' MAF = 0.00731. Appears 9% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3925374 Intergenic - ('vg') 'CT' MAF = 0.00959. Appears 10% in Africa, 4% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs4148541 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('j4') 'AG' MAF = 0.00000 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4148545 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('ne') 'AG' MAF = 0.00868. The 1000 Genome Project gives 8 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4148548 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('rz') 'GT' MAF = 0.00959 Possibly 1% in Europe and higher in Asia. ---------------------------------------------------------------------------------------------------------------- rs4150314 ERCC5 excision repair cross-complementing rodent repair deficiency - synonymous D320D ('wv') 'CT' MAF = 0.00822 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4150342 ERCC5 excision repair cross-complementing rodent repair deficiency - missense N879S ('wv') 'AG' MAF = 0.00822 Appears 3% in Europe and absent elsewhere. The change N<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs4415916 TFDP1 transcription factor Dp-1 - intron ('jt') 'GT' MAF = 0.00685 Up to 8% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4884709 PCDH9 protocadherin 9 - ('lp') 'CT' MAF = 0.00594 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4622402 DACH1 dachshund homolog 1 (Drosophila) - intron ('sk') 'AG' MAF = 0.00594 Appears 11 % in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs4646231 SLC15A1 solute carrier family 15 (oligopeptide transporter) - intron ('bn') 'CT' MAF = 0.00914. Possibly 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs7317384 Intergenic - ('aw') 'AG' MAF = 0.00731 Appears 12% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7325797 GPC5 glypican 5 - intron ('tk') 'CT' MAF = 0.00959 Appears 6% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7331981 FLT1 fms-related tyrosine kinase 1 - intron ('a') 'CT' MAF = 0.00776 Maybe 1% in Africa, and rare elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7335487 Intergenic - ('mq') 'CT' MAF = 0.00731 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7339004 Intergenic - ('mq') 'AG' MAF = 0.00914 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7981900 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('jt') 'CT' MAF = 0.00776 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7997079 RAP2A RAP2A, member of RAS oncogene family - intron ('sm') 'CT' MAF = 0.00731 Appears 2% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7993549 Intergenic - ('nj') 'CT' MAF = 0.00685 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8187840 SLC15A1 solute carrier family 15 (oligopeptide transporter), member 1 - synonymous S616S ('ah') 'CT' MAF = 0.00868 Maybe 13% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9332084 RCBTB2 regulator of chromosome condensation (RCC1) and BTB (POZ) - UTR-3 ('lk') 'CT' MAF = 0.00228. Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9516949 Intergenic - ('i') 'AG' MAF = 0.00502 Maybe 8% in Europe, less in Asia and absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs9517411 SLC15A1 solute carrier family 15 (oligopeptide transporter) - intron ('dh') 'CT' MAF = 0.00000 An uncommon SNP, but appears 1% in Italy. ---------------------------------------------------------------------------------------------------------------- rs9522395 Intergenic - ('be') 'GT' MAF = 0.00137 Maybe 2% in Europe and Asia. ---------------------------------------------------------------------------------------------------------------- rs9523241 Intergenic - ('jt') 'AC' MAF = 0.00914 Maybe 13% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9524815 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('lt') 'CT' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs9526241 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled - intron ('ru') 'CT' MAF = 0.00776 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9533168 TEX26 testis expressed 26 - missense K231N ('jd') 'GT' MAF = 0.00182 Appears 2% in Europe and absent elsewhere. The change K<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs9557495 Intergenic - ('jl') 'AG' MAF = 0.00000 Appears 30% in Asia and Africa, and possibly 1% in Italy. ('wh') 'GG' ---------------------------------------------------------------------------------------------------------------- rs9561798 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('jy') 'AG' MAF = 0.00411 Appears 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9583926 GPC5 glypican 5 - intron ('my') 'CT' MAF = 0.00731 Appears 7% in Africa, 3% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs9583937 GPC5 glypican 5 - intron ('m') 'AC' MAF = 0.00822 Maybe 11% in Africa, and absent elsewhere - an interesting SNP ---------------------------------------------------------------------------------------------------------------- rs9589726 GPC6 glypican 6 - ('jt') 'CT' MAF = 0.00091 Appears 18% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9591360 DLEU7 deleted in lymphocytic leukemia, 7 - intron ('bn') 'CT' MAF = 0.00868 Possibly 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs9594505 MTRF1 mitochondrial translational release factor 1 - intron ('r') 'AC' MAF = 0.00914 Appears to be 6% in Europe, absent elsewhere. ('wv') 'CC' ---------------------------------------------------------------------------------------------------------------- rs9600024 DIS3 DIS3 mitotic control homolog (S. cerevisiae) - nearGene-5 ('na') 'CT' MAF = 0.00365 Appears 6% in Africa, 2% in Asia and absent from Europe. ---------------------------------------------------------------------------------------------------------------- rs9603498 NHLRC3 NHL repeat containing 3 - missense L154R ('b') 'GT' MAF = 0.00776 Maybe 4% in Europe, less in Asia and absent in Africa. The change L<>R is uncommon, and could be significant. Worthwhile watching. ---------------------------------------------------------------------------------------------------------------- rs9670412 ATP4B ATPase, H+/K+ exchanging, beta polypeptide - intron ('mo') 'CT' MAF = 0.00182 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11148233 ALG11 asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase - intron ('sp') 'AG' MAF = 0.00457 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11568644 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - missense T1142M ('pa') 'AG' MAF = 0.00319 Under 2% in Europe. The change T<>M is common and not usually harmful. ---------------------------------------------------------------------------------------------------------------- rs11568679 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - synonymous L244L ('wh') 'CT' MAF = 0.00000 Possibly 4% in the Pacific area, but absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11568705 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - missense P403L (2) ('kr') 'AG' MAF = 0.00137. Appears 3% in Asia, and 1% in Europe and Africa. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11571833 BRCA2 breast cancer 2, early onset - missense K2236X ('th') 'AT' MAF = 0.00457 Appears 1% in Europe and absent elsewhere. The protein is truncated, and the homozygous form of the SNP could be significant. ---------------------------------------------------------------------------------------------------------------- rs11616203 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 - intron ('mw') 'AG' MAF = 0.00045 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11618177 Intergenic - ('eb') 'AG' MAF = 0.00822 maybe 11% in Europe, and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11616867 KIAA1704 KIAA1704 - intron ('md') 'AG' MAF = 0.00639 Appears 8% in Europe, 3% in Asia and 1% in Africa. ---------------------------------------------------------------------------------------------------------------- rs11618529 SLC7A1 solute carrier family 7 (cationic amino acid transporter), member 1 - intron ('tt') 'CT' MAF = 0.00776 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11838683 FNDC3A fibronectin type III domain containing 3A - intron ('cm') 'GT' MAF = 0.00959 Appears up to 14% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11841626 KIAA0564 KIAA0564 - ('kw') 'CT' MAF = 0.00776 Absent in Europe, but up to 13% in Africa. ---------------------------------------------------------------------------------------------------------------- rs11842116 SLC15A1 solute carrier family 15 (oligopeptide transporter), member 1 - intron ('br') 'AG' MAF = 0.00502 The 1000 Genome Project gives 5 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12146911 DLEU2 deleted in lymphocytic leukemia 2 (non-protein coding) - intron ('fk') 'AG' MAF = 0.00274 Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12184642 MYCBP2 MYC binding protein 2 - intron ('mh') 'CT' MAF = 0.00685 Poor data. Maybe 5% in Europe, so lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12853665 Intergenic - ('mo') 'AC' MAF = 0.00900 The 1000 Genome Project gives 9 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12858465 WBP4 WW domain binding protein 4 (formin binding protein 21) - nearGene-5 ('aq') 'AG' MAF = 0.00959 Maybe 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12865257 FRY-AS1 FRY antisense RNA 1 (non-protein coding) - intron ('gg') 'AG' MAF = 0.00000 An uncommon SNP. No population data. ---------------------------------------------------------------------------------------------------------------- rs12867036 IL17D interleukin 17D - nearGene-5 ('af') 'AG' MAF = 0.00731 Maybe 9% in Italy, poor worldwide data. ---------------------------------------------------------------------------------------------------------------- rs12877778 GTF2F2 general transcription factor IIF, polypeptide 2, 30kDa - intron ('ro') 'CT' MAF = 0.00731 Appears about 2% worldwide, higher in Italy. ---------------------------------------------------------------------------------------------------------------- rs13306426 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled - UTR-5 ('ri') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs17054127 Intergenic - ('wh') 'CT' MAF = 0.00091 Appears up to 20% in Asia, but absent elsewhere. ('j4') 'TT' ---------------------------------------------------------------------------------------------------------------- rs17063163 AKAP11 A kinase (PRKA) anchor protein 11 - missense H1070R ('jd') 'AG' MAF = 0.00091 Maybe 1% in Europe and absent elsewhere. The change H<>R is uncommon, but they are similar amino acids. ---------------------------------------------------------------------------------------------------------------- rs17065779 Intergenic - ('sy') 'GT' MAF = 0.00000 Uncommon in Europe, up to 11% in Asia and Africa ---------------------------------------------------------------------------------------------------------------- rs17071686 RB1 retinoblastoma 1 - missense W307C ('gn') 'AC' MAF = 0.00685 Appears 1% worldwide. The change W<>C is very uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs17073094 RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain - UTR-3 ('lr') 'AG' MAF = 0.00411 Possibly 4% in Europe, and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17080230 RFC3 replication factor C (activator 1) 3, 38kDa - intron ('jt') 'AG' MAF = 0.00900 Under 2% in Europe, much higher elsewhere. ('en') 'GG' ---------------------------------------------------------------------------------------------------------------- rs17346762 Intergenic - ('bn') 'CT' MAF = 0.00639 Appears 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17577293 CLYBL citrate lyase beta like - missense D28Y ('nr') 'GT' MAF = 0.00959 maybe 4% in Europe and absent elsewhere. The change D<>Y is very uncommon. The homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28897716 BRCA2 breast cancer 2, early onset - missense D935N ('ah') 'AG' MAF = 0.00000 An uncommon SNP. The change D<>N is fairly common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs28897747 BRCA2 breast cancer 2, early onset - missense A2717S ('oi') 'GT' MAF = 0.00100 The 1000 Genome Project gives 1 per 1000. The change A<>S is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs28897749 BRCA2 breast cancer 2, early onset - missense V2728I ('m2') 'AG' MAF = 0.00300 The 1000 Genome Project gives 3 per 1000. The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs34301344 ARL11 ADP-ribosylation factor-like 11 - missense W149X ('pg') 'AG' MAF = 0.00685 Appears about 1% worldwide. ('gg','ti') 'AA' A 'RARE' result. The premature STOP codon here may be significant. But see: http://www.ncbi.nlm.nih.gov/pubmed/18337727 ---------------------------------------------------------------------------------------------------------------- rs34309943 BRCA2 breast cancer 2, early onset - missense H2074N ('nr') 'AC' MAF = 0.00300 The 1000 Genome Project gives 3 per 1000. The change H<>N is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs34811478 GPC5 glypican 5 - intron ('di') 'GT' MAF = 0.00700 The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs34892880 SLITRK5 SLIT and NTRK-like family, member 5 - synonymous S701S ('mj') 'CT' MAF = 0.00365 Appears 1% worldwide and 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs35237896 Intergenic - ('mh') 'AG' MAF = 0.00548 Poor data. Maybe 5% in Europe, so lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs36212784 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled - nearGene-5 ('eb') 'GT' MAF = 0.00365 No population data. ---------------------------------------------------------------------------------------------------------------- rs41292782 ATP7B ATPase, Cu++ transporting, beta polypeptide - missense T991M ('lt') 'AG' MAF = 0.00999 openSNP suggest 1%. The change T<>M is common and unlikely to be significant. The gene is associated with Wilson's disease. See: http://www.ncbi.nlm.nih.gov/pubmed/16088907 ---------------------------------------------------------------------------------------------------------------- rs41293491 BRCA2 breast cancer 2, early onset - synonymous G1552G (3) ('ek') 'CT' MAF = 0.00000 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs41347648 CYSLTR2 cysteinyl leukotriene receptor 2 - missense M201V ('si') 'AG' MAF = 0.00731 Appears about 3% worldwide. The change M<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs61757642 BRCA2 breast cancer 2, early onset - intron ('dd') 'AT' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs61749895 PCCA propionyl CoA carboxylase, alpha polypeptide - missense V551F (zn') 'GT' MAF = 0.00274 The 1000 Genome Project gives 2 per 1000. The change V<>F is uncommon and the homozygous form could be significant. This gene is assicaited with 'Propionic Acidemia'. ---------------------------------------------------------------------------------------------------------------- rs72474224 GJB2 gap junction protein, beta 2, 26kDa - missense V37I ('q4') 'CT' MAF = 0.00000 openSNP suggest 1% The change V<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs72547505 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter family) - missense T262M ('gr') 'AG' MAF = 0.00045. Appears 1 per 1000 worldwide. The change T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------