Disease: Noonan Syndrome
Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 55
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 23
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 2
rs104894362
KRAS
0.882 0.200 12 25209894 missense variant G/C snv 2
rs1434040739
HRAS ; LOC101059906 ; LRRC56
0.925 0.200 11 532745 missense variant T/A snv 8.1E-06 7.0E-06 2