Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557962794
rs1557962794
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.700 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016