Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121913482 0.630 0.680 4 1801837 missense variant C/T snv 35
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs28934874 0.695 0.480 17 7675161 missense variant G/A;C;T snv 21
rs1057519981 0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs587781525 0.689 0.480 17 7673778 missense variant T/A;C;G snv 20
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs863224451 0.701 0.440 17 7673796 missense variant C/A;G;T snv 19
rs760043106 0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs1057520007 0.701 0.440 17 7674917 missense variant T/A;C;G snv 17
rs28933406 0.667 0.480 11 533875 missense variant G/C;T snv 17
rs866775781 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs1057519983 0.724 0.360 17 7673797 missense variant A/G snv 16
rs1057519996 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs942158624 0.724 0.320 17 7674948 missense variant T/A snv 16
rs587781288 0.732 0.440 17 7675190 missense variant C/A;T snv 15
rs876659802 0.732 0.440 17 7673787 missense variant G/A;C;T snv 15
rs17849781 0.701 0.480 17 7673788 missense variant G/A;C;T snv 14
rs1057519977 0.763 0.360 17 7675189 missense variant G/C snv 13
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 13