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
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 13
rs1555738475
STK11
0.776 0.400 19 1220707 frameshift variant G/- delins 12
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 9
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 8
rs199643834
FLCN ; MPRIP
0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04 6
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 5
rs879255664
FLCN
0.882 0.200 17 17222517 missense variant G/A snv 4
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv 3