Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11829119 0.851 0.040 12 19040597 intergenic variant T/A;C snv 4
rs144733372 0.882 0.120 17 45486856 intron variant T/G snv 4
rs17154917 0.851 0.040 7 81207393 intergenic variant G/A;T snv 4
rs17211233 0.882 0.040 5 81072944 intron variant T/A;C snv 4
rs9862857 0.851 0.040 3 30453840 regulatory region variant A/G;T snv 4
rs11155372 0.925 0.040 6 144698602 intron variant G/C;T snv 3
rs11990063 0.925 0.040 8 10307685 intron variant C/A;T snv 3
rs201203751 0.925 0.040 5 39203496 intron variant TT/-;T;TTT delins 3
rs34177316 0.925 0.040 4 40985283 intron variant A/-;AA;AAA delins 3
rs352759 0.925 0.040 8 15742205 intron variant T/A snv 3
rs6063349 0.925 0.040 20 49065345 intron variant G/A;C;T snv 3
rs6546604 0.925 0.040 2 70415675 intron variant G/A;T snv 3
rs7189979 0.925 0.040 16 12536330 intron variant A/C;G;T snv 3
rs75995702 0.925 0.040 11 42785177 intergenic variant C/G;T snv 3
rs7828021 0.925 0.040 8 49727454 intergenic variant C/G;T snv 3
rs319924
EYS ; PHF3
0.925 0.040 6 63777354 intron variant A/G;T snv 2
rs4685959 0.925 0.040 3 5645577 regulatory region variant C/G;T snv 2
rs4810896 0.925 0.040 20 48918761 upstream gene variant A/C;G snv 2
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 1
rs1360780 0.708 0.320 6 35639794 intron variant T/A;C snv 1
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 1
rs2710102 0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 1
rs760161369 0.882 0.040 1 11800214 missense variant G/A;C snv 2.8E-05; 4.0E-06 1
rs120074175 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 1