Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs866775781 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
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
rs942158624 0.724 0.320 17 7674948 missense variant T/A snv 16
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121912657 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 15
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
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs17849781 0.701 0.480 17 7673788 missense variant G/A;C;T snv 14
rs397507483 0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs121913478 0.708 0.640 10 121515280 missense variant T/C snv 13
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs1057519977 0.763 0.360 17 7675189 missense variant G/C snv 13
rs876660333 0.742 0.360 17 7673805 missense variant A/C;G;T snv 13
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs1057519978 0.763 0.360 17 7675191 missense variant A/C;G;T snv 12
rs121913357 0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs397516896 0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11