USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Leber Congenital Amaurosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754768875
rs754768875
Entrez Id: 7399;102723833
Gene Symbol: USH2A;LOC102723833
USH2A;LOC102723833
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019