rs113488022, BRAF

N. diseases: 490
Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.710 GeneticVariation BEFREE Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. 20735442 2011
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.710 CausalMutation CLINVAR