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: rs869312892
rs869312892
3 0.925 0.120 17 42316899 missense variant G/A snv 0.800 1.000 3 2014 2017
dbSNP: rs587777648
rs587777648
2 0.925 0.120 17 42329612 missense variant T/C snv 0.800 1.000 2 2014 2017
dbSNP: rs587777649
rs587777649
1 1.000 17 42322445 missense variant G/A;C snv 4.0E-06 0.800 1.000 2 2014 2017
dbSNP: rs587777650
rs587777650
1 1.000 17 42322409 missense variant C/G snv 0.800 1.000 2 2014 2017
dbSNP: rs706778
rs706778
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.700 1.000 2 2015 2019
dbSNP: rs10822050
rs10822050
14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs114846446
rs114846446
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs11741255
rs11741255
14 0.724 0.240 5 132475490 intron variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs12232497
rs12232497
18 0.701 0.360 17 39883866 intergenic variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs1250563
rs1250563
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs12598357
rs12598357
15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs12863738
rs12863738
14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs12928404
rs12928404
15 0.724 0.240 16 28835925 splice region variant T/C snv 0.44 0.45 0.700 1.000 1 2015 2015
dbSNP: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1689510
rs1689510
16 0.724 0.240 12 56002984 non coding transcript exon variant G/C snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785
14 0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14 0.700 1.000 1 2015 2015
dbSNP: rs193922717
rs193922717
2 0.925 0.120 17 42329448 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs2066363
rs2066363
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015