Gene: USH2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033364
rs111033364
USH2A
T 0.700 CausalMutation CLINVAR Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 15015129

2004
dbSNP: rs746551311
rs746551311
USH2A ; LOC105372918
A 0.700 CausalMutation CLINVAR Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563

2004
dbSNP: rs397518026
rs397518026
USH2A
T 0.700 GeneticVariation CLINVAR Spectrum of mutations in USH2A in British patients with Usher syndrome type II. 11311042

2001
dbSNP: rs397518043
rs397518043
USH2A
GTGGC 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000
dbSNP: rs727503731
rs727503731
USH2A
CT 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000
dbSNP: rs772808534
rs772808534
USH2A
A 0.700 CausalMutation CLINVAR Identification of novel USH2A mutations: implications for the structure of USH2A protein. 10909849

2000
dbSNP: rs80338903
rs80338903
USH2A
T 0.700 CausalMutation CLINVAR Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053

1998
dbSNP: rs1035024403
rs1035024403
USH2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1172628170
rs1172628170
USH2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1177198729
rs1177198729
USH2A ; LOC105372918
A 0.700 CausalMutation CLINVAR

dbSNP: rs1359713084
rs1359713084
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs138398671
rs138398671
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs150230450
rs150230450
USH2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553257685
rs1553257685
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553263639
rs1553263639
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553273280
rs1553273280
USH2A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553274531
rs1553274531
USH2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199605265
rs199605265
USH2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs199840367
rs199840367
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs201527662
rs201527662
USH2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs35818432
rs35818432
USH2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397518039
rs397518039
USH2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs41315579
rs41315579
USH2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236118
rs527236118
USH2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs527236119
rs527236119
USH2A
C 0.700 CausalMutation CLINVAR