Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601334
rs672601334
RIT1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs730881014
rs730881014
RIT1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR