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: rs149949
rs149949
1 1.000 0.080 6 28043738 intron variant T/C snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs13213986
rs13213986
1 1.000 0.080 6 28390232 intron variant T/A snv 5.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs116480994
rs116480994
2 0.925 0.080 6 30064745 3 prime UTR variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs111960002
rs111960002
1 1.000 0.080 8 143640250 intron variant T/C snv 2.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs13201782
rs13201782
1 1.000 0.080 6 26650825 intron variant T/A snv 5.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs149866169
rs149866169
2 0.925 0.080 6 27473944 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs7953330
rs7953330
2 0.925 0.080 12 889653 intron variant G/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs114274879
rs114274879
1 1.000 0.080 6 30914638 5 prime UTR variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs11168936
rs11168936
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs370004591
rs370004591
1 1.000 0.080 2 178776789 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs114937304
rs114937304
1 1.000 0.080 6 32373094 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs116418332
rs116418332
2 0.925 0.080 6 30193759 intron variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs11375254
rs11375254
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519977
rs1057519977
13 0.763 0.360 17 7675189 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
10 0.776 0.280 17 7673810 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519988
rs1057519988
10 0.776 0.240 17 7673812 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519989
rs1057519989
17 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519992
rs1057519992
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519996
rs1057519996
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016