Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10496964
rs10496964
2 0.923 0.036 2 144602342 intergenic variant C/T snp 0.13 0.800 1 2013 2013
dbSNP: rs12059546
rs12059546
2 0.923 0.036 1 239806797 intron variant A/G snp 0.29 0.800 1 2013 2013
dbSNP: rs13026414
rs13026414
1 1.000 0.036 2 57706920 intergenic variant C/T snp 0.28 0.800 1 2013 2013
dbSNP: rs2292096
rs2292096
1 1.000 0.036 1 200857641 3 prime UTR variant A/G snp 0.14 0.800 1 2012 2012
dbSNP: rs2717068
rs2717068
1 1.000 0.036 2 57867738 A/C snp 0.69 0.800 1 2013 2013
dbSNP: rs39861
rs39861
1 1.000 0.036 5 66856430 intron variant A/G snp 0.26 0.800 1 2013 2013
dbSNP: rs72823592
rs72823592
2 0.923 0.036 17 48045642 non coding transcript exon variant G/A,C snp 0.19 0.800 1 2013 2013
dbSNP: rs771390
rs771390
1 1.000 0.036 1 34285335 intergenic variant T/A,C snp 0.79 0.800 1 2013 2013
dbSNP: rs1064797101
rs1064797101
3 0.923 0.036 8 91078419 frameshift variant CTTAAC/C in-del 0.700 2 2015 2017
dbSNP: rs1064797102
rs1064797102
3 0.923 0.036 8 91071136 splice acceptor variant A/G snp 0.700 2 2015 2017
dbSNP: rs1064797103
rs1064797103
3 0.923 0.036 8 91078597 missense variant A/G snp 0.700 2 2015 2017
dbSNP: rs368313959
rs368313959
3 0.923 0.036 8 91078383 stop gained C/T snp 1.6E-04 9.6E-05 0.700 2 2015 2017
dbSNP: rs1057516064
rs1057516064
3 0.878 0.143 MT 9237 missense variant snp 0.700 1 2017 2017
dbSNP: rs1057516072
rs1057516072
1 1.000 0.036 MT 15060 missense variant snp 0.700 1 2017 2017
dbSNP: rs111577701
rs111577701
1 1.000 0.036 3 168143620 C/T snp 0.14 0.700 1 2014 2014
dbSNP: rs11663316
rs11663316
2 1.000 0.036 18 9027916 intergenic variant T/A snp 0.34 0.700 1 2016 2016
dbSNP: rs1178326
rs1178326
2 1.000 0.036 7 18195234 intron variant T/C snp 4.2E-02 0.700 1 2016 2016
dbSNP: rs118166657
rs118166657
2 1.000 0.036 14 63580544 intergenic variant C/G snp 1.2E-02 0.700 1 2016 2016
dbSNP: rs12668095
rs12668095
2 1.000 0.036 7 47036178 intron variant G/A,C snp 0.12 0.700 1 2016 2016
dbSNP: rs13287547
rs13287547
2 1.000 0.036 9 16286892 intergenic variant A/G snp 0.32 0.700 1 2016 2016
dbSNP: rs139145929
rs139145929
1 1.000 0.036 8 67434148 stop gained G/A snp 3.2E-05 2.9E-04 0.700 1 2015 2015
dbSNP: rs139427007
rs139427007
2 1.000 0.036 12 97202325 intergenic variant A/T snp 0.700 1 2016 2016
dbSNP: rs141860749
rs141860749
2 1.000 0.036 1 202668176 intron variant C/A snp 3.8E-04 0.700 1 2016 2016
dbSNP: rs1429264
rs1429264
2 1.000 0.036 16 84589878 intron variant T/C snp 0.28 0.700 1 2016 2016
dbSNP: rs143543475
rs143543475
2 1.000 0.036 10 27419100 G/C snp 7.5E-02 0.700 1 2016 2016