Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368049814
rs368049814
T 0.800 GeneticVariation CLINVAR The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 28981474

2017

dbSNP: rs368049814
rs368049814
T 0.800 GeneticVariation CLINVAR Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. 28761320

2017

dbSNP: rs397517990
rs397517990
T 0.800 GeneticVariation CLINVAR Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 28894305

2017

dbSNP: rs111033264
rs111033264
G 0.800 GeneticVariation CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125

2016

dbSNP: rs111033264
rs111033264
G 0.800 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016

dbSNP: rs111033273
rs111033273
G 0.800 CausalMutation CLINVAR Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 26927203

2016

dbSNP: rs202175091
rs202175091
A 0.800 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016

dbSNP: rs397517963
rs397517963
A 0.800 GeneticVariation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803

2016

dbSNP: rs397517990
rs397517990
T 0.800 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016

dbSNP: rs753330544
rs753330544
A 0.800 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016

dbSNP: rs753330544
rs753330544
A 0.800 CausalMutation CLINVAR Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 26927203

2016

dbSNP: rs111033280
rs111033280
T 0.800 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015

dbSNP: rs202175091
rs202175091
A 0.800 CausalMutation CLINVAR Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology. 25252889

2015

dbSNP: rs202175091
rs202175091
A 0.800 CausalMutation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603

2015

dbSNP: rs368049814
rs368049814
T 0.800 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015

dbSNP: rs368049814
rs368049814
T 0.800 GeneticVariation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400

2015

dbSNP: rs375668376
rs375668376
T 0.800 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015

dbSNP: rs375668376
rs375668376
T 0.800 GeneticVariation CLINVAR Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 26310143

2015

dbSNP: rs375668376
rs375668376
T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976

2015

dbSNP: rs397517963
rs397517963
A 0.800 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015

dbSNP: rs397517990
rs397517990
T 0.800 GeneticVariation CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381

2015

dbSNP: rs111033263
rs111033263
G 0.800 CausalMutation CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053

2014

dbSNP: rs111033263
rs111033263
G 0.800 CausalMutation CLINVAR Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. 24516651

2014

dbSNP: rs111033280
rs111033280
T 0.800 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014

dbSNP: rs1553261372
rs1553261372
T 0.800 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014