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
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 30
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
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
rs28933406 0.667 0.480 11 533875 missense variant G/C;T snv 17
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121913364 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs121913283 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 14
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 14
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs587777790 0.732 0.280 3 179199690 missense variant G/A snv 12
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs121913496 0.724 0.440 11 533873 missense variant C/A;G;T snv 11
rs1057519936 0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1057519937 0.776 0.200 3 179234285 missense variant T/C snv 11
rs397507484 0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 9
rs121913365 0.776 0.320 7 140753332 missense variant T/A;G snv 8
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 8