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: rs6687758
rs6687758
11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.700 1.000 5 2010 2019
dbSNP: rs10911251
rs10911251
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.700 1.000 2 2013 2019
dbSNP: rs72647484
rs72647484
9 0.790 0.080 1 22261235 regulatory region variant T/C snv 6.2E-02 0.700 1.000 2 2015 2019
dbSNP: rs1057941
rs1057941
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11119608
rs11119608
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs12143541
rs12143541
9 0.790 0.080 1 54782179 intron variant A/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs12144319
rs12144319
10 0.776 0.080 1 54780362 3 prime UTR variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs137853200
rs137853200
2 0.925 0.120 1 16129440 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs139787163
rs139787163
2 0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs1424847607
rs1424847607
1 1.000 0.080 1 16133591 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17011141
rs17011141
10 0.776 0.080 1 221939292 intron variant A/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs186507655
rs186507655
17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs201395236
rs201395236
9 0.790 0.080 1 245018119 intron variant T/C snv 1.5E-04 0.700 1.000 1 2019 2019
dbSNP: rs2184857
rs2184857
9 0.790 0.080 1 239918447 upstream gene variant A/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs2974935
rs2974935
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3753366
rs3753366
9 0.790 0.080 1 67729450 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs4360494
rs4360494
12 0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885
9 0.790 0.080 1 183056420 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs61776719
rs61776719
11 0.776 0.120 1 37995647 downstream gene variant C/A snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs658191
rs658191
9 0.790 0.080 1 39458103 non coding transcript exon variant C/G snv 6.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs6658977
rs6658977
9 0.790 0.080 1 221876478 downstream gene variant G/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517
10 0.776 0.080 1 183033504 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6691170
rs6691170
12 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs6691195
rs6691195
9 0.790 0.080 1 221989031 downstream gene variant C/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs7528276
rs7528276
9 0.790 0.080 1 39344315 intron variant T/A;C snv 0.700 1.000 1 2016 2016