Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557960039
rs1557960039
RIT1
C 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025194
rs869025194
RIT1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs672601334
rs672601334
RIT1
C 0.800 CausalMutation CLINVAR Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). 27226556

2016
dbSNP: rs672601335
rs672601335
RIT1
G 0.800 CausalMutation CLINVAR Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). 27226556

2016
dbSNP: rs869025189
rs869025189
RIT1
G 0.700 CausalMutation CLINVAR Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). 27226556

2016
dbSNP: rs869025194
rs869025194
RIT1
C 0.700 CausalMutation CLINVAR Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). 27226556

2016
dbSNP: rs869025197
rs869025197
RIT1
G 0.700 CausalMutation CLINVAR Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). 27226556

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: rs869025194
rs869025194
RIT1
C 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: rs672601334
rs672601334
RIT1
C 0.800 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs672601335
rs672601335
RIT1
G 0.800 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014
dbSNP: rs730881014
rs730881014
RIT1
C 0.700 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

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

2014
dbSNP: rs672601334
rs672601334
RIT1
C 0.800 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs672601334
rs672601334
RIT1
0.800 GeneticVariation UNIPROT Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs672601335
rs672601335
RIT1
G 0.800 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
dbSNP: rs672601335
rs672601335
RIT1
0.800 GeneticVariation UNIPROT Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013
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
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: rs730881014
rs730881014
RIT1
C 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013