Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352822
rs483352822
RIT1
G 0.700 CausalMutation CLINVAR Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. 27109146

2016
dbSNP: rs483352822
rs483352822
RIT1
G 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 25959749

2016
dbSNP: rs483352822
rs483352822
RIT1
G 0.700 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016
dbSNP: rs483352822
rs483352822
RIT1
G 0.700 CausalMutation CLINVAR Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 24939608

2014
dbSNP: rs483352822
rs483352822
RIT1
G 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs483352822
rs483352822
RIT1
A 0.700 CausalMutation CLINVAR