Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025194
rs869025194
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.710 CausalMutation CLINVAR

dbSNP: rs869025194
rs869025194
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869025197
rs869025197
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C0018916
Disease: Hemangioma
Hemangioma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025195
rs869025195
RIT1
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025194
rs869025194
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869025192
rs869025192
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869025191
rs869025191
RIT1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		T 0.700 GeneticVariation CLINVAR