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: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.900 0.953 190 2006 2020
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.893 103 1997 2018
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 1.000 0.973 75 2007 2019
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.900 0.908 65 2006 2020
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.900 0.906 64 1998 2019
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.100 0.841 44 1994 2019
dbSNP: rs7756992
rs7756992
12 0.827 0.240 6 20679478 intron variant A/G;T snv 0.900 0.966 29 2007 2019
dbSNP: rs7754840
rs7754840
9 0.807 0.200 6 20661019 intron variant G/A;C;T snv 0.900 0.958 24 2007 2019
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.100 0.762 21 1997 2018
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.100 0.850 20 1999 2017
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.100 0.900 20 2002 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.944 18 2000 2019
dbSNP: rs2237895
rs2237895
10 0.790 0.240 11 2835964 intron variant A/C;T snv 0.900 0.889 18 2008 2019
dbSNP: rs7923837
rs7923837
8 0.882 0.160 10 92722160 intergenic variant G/A;T snv 0.800 0.941 17 2007 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.100 1.000 14 2009 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.100 0.923 13 2009 2019
dbSNP: rs11196205
rs11196205
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.800 0.917 12 2006 2020
dbSNP: rs1387153
rs1387153
10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.880 1.000 12 2009 2019
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.100 1.000 12 2000 2017
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.100 1.000 11 2000 2017
dbSNP: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.100 0.800 10 2009 2019
dbSNP: rs4506565
rs4506565
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.870 0.900 10 2006 2020
dbSNP: rs757110
rs757110
6 0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06 0.790 0.900 10 1997 2018
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.780 1.000 9 2006 2018
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.090 1.000 9 2011 2015