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: rs12682374
rs12682374
9 0.790 0.080 8 127398703 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1330889
rs1330889
9 0.790 0.080 13 78035480 intron variant T/A;C snv 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: 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: rs1445011
rs1445011
9 0.790 0.080 5 40280100 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs147527678
rs147527678
17 0.708 0.280 6 32699696 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs147680653
rs147680653
17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1537372
rs1537372
14 0.752 0.120 9 22103184 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs16959063
rs16959063
9 0.790 0.080 15 32813529 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs17102823
rs17102823
10 0.776 0.080 14 34894698 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs174594
rs174594
14 0.776 0.160 11 61852357 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs189583
rs189583
10 0.776 0.080 20 6395810 regulatory region variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1912804
rs1912804
9 0.790 0.080 16 78592686 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1963413
rs1963413
10 0.776 0.080 19 41365668 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2250430
rs2250430
10 0.776 0.080 12 6312008 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2293581
rs2293581
10 0.776 0.080 15 32718535 5 prime UTR variant G/A;C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs2300206
rs2300206
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs254563
rs254563
9 0.790 0.080 5 135104736 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2696839
rs2696839
9 0.790 0.080 16 86306842 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2732875
rs2732875
9 0.790 0.080 X 9795858 intron variant C/G;T snv 0.700 1.000 1 2019 2019
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: rs34405347
rs34405347
10 0.776 0.080 9 98917470 regulatory region variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4246215
rs4246215
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.700 1.000 1 2019 2019