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: rs12660382
rs12660382
3 0.882 0.200 6 31475546 intron variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs17315309
rs17315309
1 1.000 0.080 8 52295127 intron variant A/G;T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1980495
rs1980495
2 0.925 0.160 6 32379017 intron variant A/C snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2071286
rs2071286
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2395157
rs2395157
5 0.827 0.240 6 32380368 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2523647
rs2523647
1 1.000 0.080 6 31482001 intron variant A/G snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs6941112
rs6941112
3 0.882 0.120 6 31978837 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1074532
rs1074532
1 1.000 0.080 4 65791342 intergenic variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs2395163
rs2395163
3 0.882 0.160 6 32420032 intergenic variant T/C snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs660895
rs660895
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs70993900
rs70993900
3 0.882 0.080 6 32618381 intergenic variant C/- delins 4.8E-02 0.710 1.000 1 2019 2019
dbSNP: rs9268542
rs9268542
4 0.851 0.280 6 32416944 intergenic variant A/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs9275312
rs9275312
6 0.807 0.280 6 32697951 intergenic variant A/G snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs11218708
rs11218708
1 1.000 0.080 11 122601355 regulatory region variant G/A snv 0.19 0.710 1.000 1 2018 2018
dbSNP: rs9275184
rs9275184
3 0.882 0.200 6 32686937 regulatory region variant T/C snv 9.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2011 2019
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2017 2017
dbSNP: rs2244839
rs2244839
3 0.882 0.200 6 31470591 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2395488
rs2395488
3 0.882 0.160 6 31478132 non coding transcript exon variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs2516424
rs2516424
2 0.925 0.160 6 31480538 non coding transcript exon variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs443198
rs443198
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.700 1.000 1 2012 2012
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2020 2020
dbSNP: rs1051336
rs1051336
2 0.925 0.120 6 32444815 3 prime UTR variant G/A;C snv 0.15 0.010 1.000 1 2018 2018