Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.800 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. 24227914

2013
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. 21686329

2011
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 20507924

2010
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.800 GeneticVariation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999

2010
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.800 GeneticVariation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 17296898

2007
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. 16098008

2005
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563

2004
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. 12427073

2002
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664

2002
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 10775529

2000
dbSNP: rs80338902
rs80338902
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.800 CausalMutation CLINVAR