USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: RETINITIS PIGMENTOSA 39 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553299079
rs1553299079
Entrez Id: 7399;102723833
Gene Symbol: USH2A;LOC102723833
USH2A;LOC102723833
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603 2015
dbSNP: rs1553299079
rs1553299079
Entrez Id: 7399;102723833
Gene Symbol: USH2A;LOC102723833
USH2A;LOC102723833
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099 2014