Gene: USH2A ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033263
rs111033263
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs111033264
rs111033264
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs111033273
rs111033273
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs111033280
rs111033280
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs121912599
rs121912599
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs121912600
rs121912600
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs143344549
rs143344549
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs1553261372
rs1553261372
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs368049814
rs368049814
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs369522997
rs369522997
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs397517963
rs397517963
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs397517990
rs397517990
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs527236137
rs527236137
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs80338902
rs80338902
USH2A
0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954

2013
dbSNP: rs111033263
rs111033263
USH2A
0.800 GeneticVariation UNIPROT Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011
dbSNP: rs111033263
rs111033263
USH2A
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: rs111033263
rs111033263
USH2A
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Usher syndrome. 21697857

2011
dbSNP: rs111033263
rs111033263
USH2A
0.800 GeneticVariation UNIPROT Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887

2011
dbSNP: rs111033264
rs111033264
USH2A
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: rs111033264
rs111033264
USH2A
0.800 GeneticVariation UNIPROT Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887

2011
dbSNP: rs111033264
rs111033264
USH2A
0.800 GeneticVariation UNIPROT Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011
dbSNP: rs111033273
rs111033273
USH2A
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: rs111033273
rs111033273
USH2A
0.800 GeneticVariation UNIPROT Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887

2011
dbSNP: rs111033273
rs111033273
USH2A
0.800 GeneticVariation UNIPROT Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011
dbSNP: rs111033280
rs111033280
USH2A
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