Disease: Cardio-facio-cutaneous syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv 9
rs121434498
MAP2K2
0.807 0.280 19 4117553 missense variant A/C;G;T snv 6