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
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
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
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs121913348 0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs121913364 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs28931588 0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs28931589 0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs149617956 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-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