Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs760043106 0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs12203592 0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs764146326 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 20
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs28933406 0.667 0.480 11 533875 missense variant G/C;T snv 17
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121913240 0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121912657 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 15
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs1057519981 0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs587781525 0.689 0.480 17 7673778 missense variant T/A;C;G snv 20
rs78311289 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
rs28934874 0.695 0.480 17 7675161 missense variant G/A;C;T snv 21
rs483352697 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 17
rs747342068 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 17
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