Disease: Cardio-facio-cutaneous syndrome
Source: ALL
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 73
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6