USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation BEFREE The most common mutant allele in ARRP patients was C759F and it was found in 10 patients. 15325563 2004