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: rs2237892
rs2237892
16 0.790 0.320 11 2818521 intron variant C/T snv 9.2E-02 0.900 1.000 32 2008 2019
dbSNP: rs7901695
rs7901695
6 0.851 0.160 10 112994329 intron variant T/C snv 0.34 0.900 1.000 23 2006 2020
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.900 1.000 17 2007 2018
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: rs10946398
rs10946398
7 0.827 0.160 6 20660803 intron variant A/C snv 0.40 0.900 1.000 13 2007 2019
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: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.100 1.000 12 2001 2016
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.100 1.000 12 1996 2019
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: rs2237897
rs2237897
6 0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02 0.880 1.000 11 2008 2019
dbSNP: rs4430796
rs4430796
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.870 1.000 11 2009 2019
dbSNP: rs2144908
rs2144908
5 0.851 0.120 20 44357077 intron variant G/A snv 0.18 0.100 1.000 10 2006 2019
dbSNP: rs231362
rs231362
1 1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62 0.840 1.000 10 2010 2019
dbSNP: rs3802177
rs3802177
5 1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24 0.820 1.000 10 2008 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.790 1.000 10 2010 2019
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: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.770 1.000 9 2008 2019
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
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.090 1.000 9 2008 2017
dbSNP: rs4607103
rs4607103
4 0.882 0.120 3 64726228 intron variant C/T snv 0.28 0.840 1.000 9 2008 2019
dbSNP: rs7578597
rs7578597
7 0.807 0.240 2 43505684 missense variant T/C snv 9.9E-02 0.14 0.840 1.000 9 2008 2017
dbSNP: rs765798193
rs765798193
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.090 1.000 9 2011 2015
dbSNP: rs12779790
rs12779790
5 0.882 0.120 10 12286011 intergenic variant A/G snv 0.17 0.850 1.000 8 2008 2015
dbSNP: rs12970134
rs12970134
13 0.790 0.280 18 60217517 intergenic variant G/A snv 0.21 0.840 1.000 8 2009 2018