Chromosome 20
Chromosome 19 << >> Chromosome 21Back
--------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe No data = 0 Rare SNPs = 141 Minor Allele Frequency >0 and <0.01 = 326 Minor Allele Frequency >=0.01 and <0.02 = 469 Minor Allele Frequency >=0.02 and <0.03 = 549 Minor Allele Frequency >=0.03 and <0.05 = 1036 Minor Allele Frequency >=0.05 and <0.5 = 21150 Total of SNPs = 23671 There are also 160 i-SNPs for which there is no data --------------------------------------------------------------------------------------------------------------- Summary of data - FTDNA No data = 0 Rare SNPs = 131 Minor Allele Frequency >0 and <0.01 = 275 Minor Allele Frequency >=0.01 and <0.02 = 407 Minor Allele Frequency >=0.02 and <0.03 = 438 Minor Allele Frequency >=0.03 and <0.05 = 752 Minor Allele Frequency >=0.05 and <0.5 = 15879 Total of common SNPs = 17882 There are also 590 unique SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'an' (email: pma_851[at]hotmail[dot]com) <0.01 rs3176126 at Chr20:22974271 gave 'AG' The minor allele is 'A' with a MAF = 0.00868. rs11696330 at Chr20:44293437 gave 'AG' The minor allele is 'G' with a MAF = 0.00959 ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs12479520 at Chr20:13318707 gave 'CT' The minor allele is 'T' with a MAF = 0.00411 ---------------------------------------------------------------------------------------------------------------- Person:- 'i' (email withheld) <0.01: rs13043752 at Chr20:32346969 gave 'AG' The minor allele is 'A' with a MAF = 0.00502 rs17219643 at Chr20:40139346 gave 'CT' The minor allele is 'T' with a MAF = 0.00594 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs171165 ATRN attractin - intron ('ne') 'AG' MAF = 0.00411 Appears 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs752606 TPD52L2 tumor protein D52-like 2 - UTR-3 ('pa') 'AG' MAF = 0.00731 Less than 3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs1739587 Intergenic - ('ac') 'CT' MAF = 0.00182. Possibly 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1800576 THBD thrombomodulin - missense A43T ('ro') 'CT' MAF = 0.0014. The 1000 Genome Project gives 1 per 1000. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs1800579 THBD thrombomodulin - missense P501L ('lw') 'AG' MAF = 0.00045. The 1000 genome Project gives 4 per 1000. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2231623 TP53TG5 TP53 target 5 - missense P221L ('wh') 'AG' MAF = 0.00685. Possibly 7% in Asia and less elsewhere. The change P<>L is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2231839 EPPIN-WFDC6 SPINLW1-WFDC6 readthrough - missense K128T ('jy') 'GT' MAF = 0.00319. Appears 4% in Asia and absent elsewhere. The change K<>T is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2232078 FERMT1 fermitin family member 1 - missense A534T ('sk') 'CT' MAF = 0.00274. Appears 7 per 1000 worldwide. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2232585 LBP lipopolysaccharide binding protein - missense L125I (1) ('mo') 'AC' MAF = 0.00502 Appears 1% in Europe and Africa, and absent from Asia. The change L<>I is fairly common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs2232607 LBP lipopolysaccharide binding protein - missense D283G ('jw') 'AG' MAF = 0.00639 Appears 2-3% in Europe, absent elsewhere. The change D<>G is uncommon, and it will worthwhile watching this SNP. ---------------------------------------------------------------------------------------------------------------- rs2235591 EMILIN3 elastin microfibril interfacer 3 - missense G459E (2) ('mo') 'CT' MAF = 0.00639. The 1000 Genome Project gives 6 per 1000. The change G<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs2251939 Intergenic - ('hs') 'CT' MAF = 0.00091 Appears 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs2257015 CRLS1 cardiolipin synthase 1 - UTR-5 ('za') 'CT' MAF = 0.00731 Possibly 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs2426624 Intergenic - ('cm') 'AG' MAF = 0.00000 Uncommon SNP, possibly 1% in Italy. ---------------------------------------------------------------------------------------------------------------- rs3176122 THBD thrombomodulin - UTR-3 ('dm') 'CT' MAF = 0.00594. Around 4-6% in Europe and Africa, presumably low in Asia. ---------------------------------------------------------------------------------------------------------------- rs3176124 THBD thrombomodulin - UTR-3 ('dm') 'AG' MAF = 0.00045. Possibly 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3176126 Intergenic - ('ak') 'AG' MAF = 0.00868. Appears about 4% in Europe. ---------------------------------------------------------------------------------------------------------------- rs3746581 PABPC1L poly(A) binding protein, cytoplasmic 1-like - synonymous I357I ('jy') 'CT' MAF = 0.00228 Appears 2% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs3746700 UBOX5 U-box domain containing 5 - intron ('mz') 'AG' MAF = 0.00182 Appears 4% in Asia, and 2% in Europe and Africa. ---------------------------------------------------------------------------------------------------------------- rs3761169 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) - synonymous R709R ('sy') 'AG' MAF = 0.00228. Appears 6 per 1000 in Asia, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4810829 Intergenic - ('pa') 'AC' MAF = 0.00228 Less than 2% in Europe, possibly absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs5743497 BPI bactericidal/permeability-increasing protein - missense A12T ('ri') 'AG' MAF = 0.00594 Appears 2% worldwide. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs5743500 PPP1R8 protein phosphatase 1, regulatory subunit 8 - UTR-5 ('an') 'CT' MAF = 0.00182 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs5744203 LBP lipopolysaccharide binding protein - synonymous A92A ('lg') 'AG' MAF = 0.00200 The 1000 Genome Project gives 2 per 1000. ---------------------------------------------------------------------------------------------------------------- rs6012135 ZMYND8 zinc finger, MYND-type containing 8 - UTR-3 ('q4') 'AG' MAF = 0.00594 Appears 9% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6017363 PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma - intron ('j4') 'AC' MAF = 0.00959 Appears 7% in Asia, 3% in Africa and 1% in Europe. ---------------------------------------------------------------------------------------------------------------- rs6026648 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex - synonymous A3A (3) ('ji') 'AG' MAF = 0.00999 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs6028901 Intergenic - ('mb') 'CT' MAF = 0.00685 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6032709 CDH22 cadherin 22, type 2 - intron ('na') 'CT' MAF = 0.00000 Appears 2% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6036916 Intergenic - ('mb') 'CT' MAF = 0.00822 Appears 9% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs6060022 NCOA6 nuclear receptor coactivator 6 - missense I1002V ('gd') 'CT' MAF = 0.00182 Appears 1% in Africa and absent elsewhere. The change I<>V is common and is unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs6061836 CDH4 cadherin 4, type 1, R-cadherin (retinal) - intron ('ng') 'CT' MAF = 0.00822 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6067118 PTGIS prostaglandin I2 (prostacyclin) synthase - intron ('nh') 'CT' MAF = 0.00137 An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs6073020 Intergenic - ('mh') 'AG' MAF = 0.00776 Appears 1% in Europe, and less elsewhere. ('br') 'AA' ---------------------------------------------------------------------------------------------------------------- rs6088729 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein - missense S16R (3) ('m5') 'AC' MAF = 0.00999 An uncommon SNP. The change S<>R is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs6095705 Intergenic - ('gr') 'AG' MAF = 0.00639 Possibly 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6096494 Intergenic - ('mq') 'CT' MAF = 0.00914 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6101066 Intergenic - ('mj') 'CT' MAF = 0.00091 Appears 17% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6105404 MACROD2 MACRO domain containing 2 - intron ('gh') 'CT' MAF = 0.00822 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs6138795 Intergenic - ('j4') 'AG' MAF = 0.00000 Appears 21% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7251093 Intergenic - 'AG' MAF = 0.00000 'Rare' in Europe, but maybe 8% in Africa and as high as 42% in Japan ---------------------------------------------------------------------------------------------------------------- rs7264339 MACROD2 MACRO domain containing 2 - intron ('jw') 'AG' MAF = 0.00411 Appears 5% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7267807 GINS1 GINS complex subunit 1 (Psf1 homolog) - UTR-3 ('mb') 'AG' MAF = 0.00731 Appears 7% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7268786 Intergenic - ('c2-FTDNA') 'CT' MAF = 0.01142 Appears 1% in Africa and absent elsewhere ---------------------------------------------------------------------------------------------------------------- rs7269297 DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit - nearGene-5 ('ig') 'GT' MAF = 0.00457 Appears 2% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8107027 RYR1 ryanodine receptor 1 (skeletal) - intron 'AG' MAF = 0.00776 Around 6% in Europe, and absent in Africa & Asia 'AA' is uncommon; and presumably of no medical importance ---------------------------------------------------------------------------------------------------------------- rs8117460 SEL1L2 sel-1 suppressor of lin-12-like 2 (C. elegans) - intron ('fk') 'AG' MAF = 0.00868 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11570019 CDC25B cell division cycle 25 homolog B (S. pombe) - missense E534K ('j4') 'AG' MAF = 0.00137 Appears 4% in Asia,and 1% in Europe and Asia. The change E<>K is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs11696330 CDH22 cadherin 22, type 2 - intron ('ja') 'AG' MAF = 0.00959 Appears 8% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11697265 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex - intron ('cy') 'CT' MAF = 0.00999 openSNP suggests 1 per 200. ---------------------------------------------------------------------------------------------------------------- rs11698620 Intergenic - ('dy') 'AG' MAF = 0.00137 The 1000 Genome Project gives 1 per 1000. ---------------------------------------------------------------------------------------------------------------- rs11699859 KIAA1755 KIAA1755 - missense T524I ('ng') 'AG' MAF = 0.00182 Possibly 1% in Europe and absent elsewhere. The change T<>I is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs11908073 Intergenic - ('me') 'AG' MAF = 0.00822 Appears 15% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12479520 TASP1 taspase, threonine aspartase, 1 - intron ('b') 'CT' MAF = 0.00411 About 1% in Europe, 2% in Asia, absent in Africa - may be useful to track ---------------------------------------------------------------------------------------------------------------- rs13038201 Integenic - ('gn') 'CT' MAF = 0.00548 Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13039715 C20orf114 BPI fold containing family B, member 1 - nearGene-5 ('c2-FTDNA') 'GT' MAF = 0.01371 Appears 12% in Europe and Asia, possibly absent in Africa. ---------------------------------------------------------------------------------------------------------------- rs13040764 Intergenic - ('f0') 'AG' MAF = 0.00914 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs13043752 AHCY adenosylhomocysteinase - missense R38W ('i') 'AG' MAF = 0.00502 About 2% worldwide The change 'R38W' is uncommon - could be significant when homozygous. ---------------------------------------------------------------------------------------------------------------- rs16983154 Intergenic - ('mb') 'CT' MAF = 0.00000 Appears 25% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17219643 PTPRT protein tyrosine phosphatase, receptor type, T - intron ('i') 'CT' MAF = 0.00594 Appears 2% in Europe, higher in Africa, possibly absent in Asia ---------------------------------------------------------------------------------------------------------------- rs17241518 Intergenic - ('p') 'AG' MAF = 0.00685 Up to 6% in Europe, lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17526212 Intergenic - ('ap-FTDNA') 'CT' MAF = 0.00502 Appears to be 1-3% worldwide. ---------------------------------------------------------------------------------------------------------------- rs17811401 PTPRT protein tyrosine phosphatase, receptor type, T - missense M76V ('a') 'CT' MAF = 0.00594 Appears 3% in Europe, less elsewhere. The change M<>V is not usually pathological. ---------------------------------------------------------------------------------------------------------------- rs28368064 SPO11 SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) - intron ('cv') 'AG' MAF = 0.00959 Maybe up to 10% in Europe, very low elsewhere. ---------------------------------------------------------------------------------------------------------------- rs28382138 Intergenic - ('za') 'CT' MAF = 0.00959. Possibly 1% in Europe and up to 10% in Africa. ---------------------------------------------------------------------------------------------------------------- rs28712393 PTPRA protein tyrosine phosphatase, receptor type, A - intron ('zn') 'AC' MAF = 0.00999 An uncommon SNP. No further data. ---------------------------------------------------------------------------------------------------------------- rs28937880 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 - missense E209K ('zn') 'AG' MAF = 0.0037 An uncommon SNP. No further data. The change E<>K in uncommon and the homozygous form could be significant. Associated with 'Periventricular Heterotopia' see: http://omim.org/entry/605371 ---------------------------------------------------------------------------------------------------------------- rs34648990 ZFP64 zinc finger protein 64 homolog (mouse) - UTR-3 ('pi') 'AG' MAF = 0.00228 Appears 2% in Europe. ---------------------------------------------------------------------------------------------------------------- rs41301825 AHCY adenosylhomocysteinase - missense G123R ('pg') '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. ---------------------------------------------------------------------------------------------------------------- rs41348347 THBD thrombomodulin - missense D486Y ('ps') 'AC' MAF = 0.0078. The 1000 Genome Project gives 7 per 1000. The change D<>Y 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