Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025193
rs869025193
RIT1
C 0.800 CausalMutation CLINVAR Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 26757980

2016
dbSNP: rs869025193
rs869025193
RIT1
0.800 GeneticVariation UNIPROT Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 25959749

2016
dbSNP: rs869025193
rs869025193
RIT1
C 0.800 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs869025193
rs869025193
RIT1
0.800 GeneticVariation UNIPROT Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013