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: rs2523987
rs2523987
5 0.827 0.280 6 30112216 intron variant A/C snv 9.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs8321
rs8321
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs9270986
rs9270986
3 0.882 0.160 6 32606283 intergenic variant A/C snv 0.85 0.700 1.000 1 2015 2015
dbSNP: rs1805010
rs1805010
12 0.752 0.400 16 27344882 missense variant A/C;G;T snv 0.45 0.020 0.500 2 2012 2018
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2008 2015
dbSNP: rs11229
rs11229
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2012 2012
dbSNP: rs1235162
rs1235162
6 0.827 0.280 6 29569447 intron variant A/G snv 6.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs1270942
rs1270942
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs1634718
rs1634718
3 0.925 0.160 6 31005088 regulatory region variant A/G snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs17209237
rs17209237
1 1.000 0.120 5 143277647 downstream gene variant A/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 < 0.001 1 2018 2018
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2844657
rs2844657
3 0.882 0.240 6 30861745 upstream gene variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2893321
rs2893321
3 0.882 0.200 13 108290686 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs3129939
rs3129939
5 0.827 0.360 6 32368989 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs3129963
rs3129963
4 0.851 0.280 6 32412431 downstream gene variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs3132610
rs3132610
6 0.807 0.280 6 30576624 intron variant A/G snv 7.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs3792783
rs3792783
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs389884
rs389884
10 0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs9277534
rs9277534
7 0.790 0.280 6 33087030 3 prime UTR variant A/G snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 0.500 2 2018 2019
dbSNP: rs3099844
rs3099844
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs3130544
rs3130544
10 0.807 0.360 6 31090563 intergenic variant C/A snv 7.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs204990
rs204990
4 0.851 0.280 6 32193653 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3130618
rs3130618
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2012 2012