Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025189
rs869025189
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs869025189
rs869025189
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980

2016
dbSNP: rs869025189
rs869025189
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs869025189
rs869025189
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs869025189
rs869025189
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013