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rs111033273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033273(C;C)
Make rs111033273(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216321921
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033273
ebirs111033273
HLIrs111033273
Exacrs111033273
Varsomers111033273
Maprs111033273
PheGenIrs111033273
hapmaprs111033273
1000 genomesrs111033273
hgdprs111033273
ensemblrs111033273
gopubmedrs111033273
geneviewrs111033273
scholarrs111033273
googlers111033273
pharmgkbrs111033273
gwascentralrs111033273
openSNPrs111033273
23andMers111033273
23andMe allrs111033273
SNP Nexus

SNPshotrs111033273
SNPdbers111033273
MSV3drs111033273
GWAS Ctlgrs111033273
Max Magnitude0
ClinVar
Risk rs111033273(C;C)
Alt rs111033273(C;C)
Reference rs111033273(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216495263A>G
CLNSRC ClinVar
CLNACC RCV000041794.2,


[PMID 10909849] Identification of novel USH2A mutations: implications for the structure of USH2A protein.

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