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rs111033272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033272(A;A)
Make rs111033272(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position216325499
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033272
ebirs111033272
HLIrs111033272
Exacrs111033272
Varsomers111033272
Maprs111033272
PheGenIrs111033272
hapmaprs111033272
1000 genomesrs111033272
hgdprs111033272
ensemblrs111033272
gopubmedrs111033272
geneviewrs111033272
scholarrs111033272
googlers111033272
pharmgkbrs111033272
gwascentralrs111033272
openSNPrs111033272
23andMers111033272
23andMe allrs111033272
SNP Nexus

SNPshotrs111033272
SNPdbers111033272
MSV3drs111033272
GWAS Ctlgrs111033272
Max Magnitude0
ClinVar
Risk rs111033272(A;A)
Alt rs111033272(A;A)
Reference rs111033272(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216498841G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002452.4,


[PMID 15015129OA-icon.png] 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.


[PMID 15043528] Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.


[PMID 15241801] USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.


[PMID 15325563] Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.


[PMID 18273898] Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.