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: 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: rs12660382
rs12660382
3 0.882 0.200 6 31475546 intron variant C/T snv 0.19 0.700 1.000 1 2012 2012
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: 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: rs2246618
rs2246618
3 0.882 0.160 6 31511209 upstream gene variant C/T snv 0.32 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: rs2395163
rs2395163
3 0.882 0.160 6 32420032 intergenic variant T/C snv 0.17 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: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 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: rs2523647
rs2523647
1 1.000 0.080 6 31482001 intron variant A/G snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs2858331
rs2858331
5 0.827 0.240 6 32713500 upstream gene variant A/G snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs3763309
rs3763309
3 0.882 0.160 6 32408196 upstream gene variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3892710
rs3892710
4 0.851 0.240 6 32715085 upstream gene variant C/T snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs3916765
rs3916765
3 0.882 0.200 6 32717773 upstream gene variant G/A snv 8.5E-02 0.700 1.000 1 2012 2012
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: rs482759
rs482759
1 1.000 0.080 6 32227240 upstream gene variant A/G;T snv 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: rs6941112
rs6941112
3 0.882 0.120 6 31978837 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
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: 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: rs9275312
rs9275312
6 0.807 0.280 6 32697951 intergenic variant A/G snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs9275390
rs9275390
3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.700 1.000 1 2012 2012
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