Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 14
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv 11
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2