Disease: Noonan Syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 13
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10