Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554519546
rs1554519546
RP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 10484783

1999