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

dbSNP: rs483352822
rs483352822
A 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
T 0.700 CausalMutation CLINVAR

dbSNP: rs869025191
rs869025191
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025194
rs869025194
C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312687
rs869312687
G 0.700 CausalMutation CLINVAR

dbSNP: rs672601335
rs672601335
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: rs869025191
rs869025191
G 0.700 CausalMutation CLINVAR [Bone marrow transplantation: principles, indications and results]. 2657980

1989

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

2013

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

2013

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

2013

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

2013

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

2013

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

2013

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

2013

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

2013

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

2013

dbSNP: rs869025194
rs869025194
C 0.700 CausalMutation CLINVAR Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 23791108

2013

dbSNP: rs672601334
rs672601334
C 0.800 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014

dbSNP: rs672601334
rs672601334
C 0.800 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014

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

2014

dbSNP: rs672601335
rs672601335
G 0.800 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014

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

2014

dbSNP: rs483352822
rs483352822
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: rs730881014
rs730881014
C 0.700 CausalMutation CLINVAR Further evidence of the importance of RIT1 in Noonan syndrome. 25124994

2014