USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: USHER SYNDROME, TYPE IIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553313793
rs1553313793
Entrez Id: 7399;105372918
Gene Symbol: USH2A;LOC105372918
USH2A;LOC105372918
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		GC 0.700 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099 2014