Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601335
rs672601335
RIT1
G 0.800 CausalMutation CLINVAR Lichenoid tissue reaction (LTR) induced by local transfer of Ia-reactive T-cell clones. II. LTR by epidermal invasion of cytotoxic lymphokine-producing autoreactive T cells. 2439608

1987
dbSNP: rs1557962794
rs1557962794
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 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: rs730881014
rs730881014
RIT1
C 0.700 CausalMutation CLINVAR Recent advances in RASopathies. 26446362

2016
dbSNP: rs730881014
rs730881014
RIT1
C 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: rs730881014
rs730881014
RIT1
C 0.700 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016
dbSNP: rs730881014
rs730881014
RIT1
C 0.700 CausalMutation CLINVAR The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome. 26242988

2016
dbSNP: rs730881014
rs730881014
RIT1
C 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs869025189
rs869025189
RIT1
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
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
G 0.700 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 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016
dbSNP: rs869025191
rs869025191
RIT1
T 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: rs869025191
rs869025191
RIT1
T 0.700 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016
dbSNP: rs869025191
rs869025191
RIT1
G 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs869025191
rs869025191
RIT1
T 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016
dbSNP: rs869025191
rs869025191
RIT1
G 0.700 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

2016
dbSNP: rs869025194
rs869025194
RIT1
C 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: rs869025194
rs869025194
RIT1
C 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

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: rs869025194
rs869025194
RIT1
C 0.700 CausalMutation CLINVAR Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 27101134

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: rs869025197
rs869025197
RIT1
G 0.700 CausalMutation CLINVAR Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 26714497

2016