Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434498
rs121434498
MAP2K2
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008