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
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
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 21
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
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 15
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs121913496 0.724 0.440 11 533873 missense variant C/A;G;T snv 11
rs11547328 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 6
rs121913240 0.672 0.440 12 25227342 missense variant T/A;C;G snv 6
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 1
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 1