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rs111033263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033263(C;C)
Make rs111033263(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215799066
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033263
ebirs111033263
HLIrs111033263
Exacrs111033263
Varsomers111033263
Maprs111033263
PheGenIrs111033263
hapmaprs111033263
1000 genomesrs111033263
hgdprs111033263
ensemblrs111033263
gopubmedrs111033263
geneviewrs111033263
scholarrs111033263
googlers111033263
pharmgkbrs111033263
gwascentralrs111033263
openSNPrs111033263
23andMers111033263
23andMe allrs111033263
SNP Nexus

SNPshotrs111033263
SNPdbers111033263
MSV3drs111033263
GWAS Ctlgrs111033263
Max Magnitude0
ClinVar
Risk rs111033263(C;C)
Alt rs111033263(C;C)
Reference rs111033263(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215972408A>G
CLNSRC ClinVar
CLNACC RCV000041960.2,


[PMID 17085681OA-icon.png] Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.