Gene: USH2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338903
rs80338903
USH2A
T 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs869312186
rs869312186
USH2A
A 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs727503715
rs727503715
USH2A
A 0.700 CausalMutation CLINVAR Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 17405132

2007
dbSNP: rs80338902
rs80338902
USH2A
A 0.700 GeneticVariation CLINVAR Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 10775529

2000
dbSNP: rs746837034
rs746837034
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs758705873
rs758705873
USH2A ; LOC105372918
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853408
rs878853408
USH2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853410
rs878853410
USH2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853413
rs878853413
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853414
rs878853414
USH2A
T 0.700 GeneticVariation CLINVAR