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rs111033264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033264(C;C)
Make rs111033264(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215782762
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033264
ebirs111033264
HLIrs111033264
Exacrs111033264
Varsomers111033264
Maprs111033264
PheGenIrs111033264
hapmaprs111033264
1000 genomesrs111033264
hgdprs111033264
ensemblrs111033264
gopubmedrs111033264
geneviewrs111033264
scholarrs111033264
googlers111033264
pharmgkbrs111033264
gwascentralrs111033264
openSNPrs111033264
23andMers111033264
23andMe allrs111033264
SNP Nexus

SNPshotrs111033264
SNPdbers111033264
MSV3drs111033264
GWAS Ctlgrs111033264
Max Magnitude0
ClinVar
Risk rs111033264(C;C)
Alt rs111033264(C;C)
Reference rs111033264(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215956104A>G
CLNSRC ClinVar
CLNACC RCV000041673.3,


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