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: rs17801127
rs17801127
2 2 149707970 intron variant C/T snv 8.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs185355701
rs185355701
2 6 33893066 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1998303
rs1998303
3 9 82800066 intergenic variant A/G snv 0.37 0.700 1.000 1 2007 2007
dbSNP: rs200088103
rs200088103
2 8 144505033 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.0E-04 0.700 1.000 1 2019 2019
dbSNP: rs201022
rs201022
2 6 6669940 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2024641
rs2024641
2 22 35734507 downstream gene variant G/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs206833
rs206833
3 1.000 0.040 2 31485750 intergenic variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs2078087
rs2078087
4 1 183389270 intron variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs2109505
rs2109505
6 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.700 1.000 1 2018 2018
dbSNP: rs2241339
rs2241339
3 2 169013785 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2281135
rs2281135
10 0.851 0.160 22 43936690 intron variant G/A snv 0.19 0.700 1.000 1 2008 2008
dbSNP: rs2294915
rs2294915
5 1.000 0.040 22 43945024 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2383733
rs2383733
2 9 27869512 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.800 1.000 1 2011 2011
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs34531324
rs34531324
3 1.000 0.120 5 174435441 intron variant A/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs3747207
rs3747207
7 22 43928975 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs3782886
rs3782886
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2010 2010
dbSNP: rs41307935
rs41307935
3 1.000 0.120 1 26854576 3 prime UTR variant C/T snv 6.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs45587331
rs45587331
2 10 96700824 non coding transcript exon variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs4823173
rs4823173
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.700 1.000 1 2019 2019
dbSNP: rs4835265
rs4835265
6 4 145900258 intron variant C/A snv 0.15 0.700 1.000 1 2018 2018