Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 29
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs118203682
TSC1
0.882 0.160 9 132902640 stop gained G/A snv 5
rs45517403
TSC2
1.000 0.040 16 2088143 missense variant A/C;G snv 2