Disease: Cardio-facio-cutaneous syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv 6