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
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs587781525 0.689 0.480 17 7673778 missense variant T/A;C;G snv 20
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs760043106 0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs483352697 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 17
rs121913348 0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs104894360 0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs587781991 0.724 0.240 17 7675208 missense variant C/A;T snv 14
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 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