Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519879 0.763 0.280 15 44711548 start lost T/C;G snv 10
rs121913370 0.763 0.360 7 140753393 missense variant T/C;G snv 9
rs121913366 0.763 0.400 7 140753345 missense variant A/C;T snv 6
rs267606870 0.763 0.280 15 90088703 missense variant G/A;C snv 6
rs2231137 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 1
rs876660333 0.742 0.360 17 7673805 missense variant A/C;G;T snv 13
rs121913357 0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 7
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
rs1057519983 0.724 0.360 17 7673797 missense variant A/G snv 16
rs942158624 0.724 0.320 17 7674948 missense variant T/A snv 16
rs866775781 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs121913485 0.716 0.400 4 1804372 missense variant A/G snv 8
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913478 0.708 0.640 10 121515280 missense variant T/C snv 13
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 6
rs730882005 0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 20
rs863224451 0.701 0.440 17 7673796 missense variant C/A;G;T snv 19
rs1057520007 0.701 0.440 17 7674917 missense variant T/A;C;G snv 17
rs1057519996 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
rs17849781 0.701 0.480 17 7673788 missense variant G/A;C;T snv 14
rs11547328 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs28934874 0.695 0.480 17 7675161 missense variant G/A;C;T snv 21