Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503731
rs727503731
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		CT 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000