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rs111033267

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033267(A;A)
Make rs111033267(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position150972520
GeneCLRN1, CLRN1-AS1
is asnp
is mentioned by
dbSNPrs111033267
ebirs111033267
HLIrs111033267
Exacrs111033267
Varsomers111033267
Maprs111033267
PheGenIrs111033267
hapmaprs111033267
1000 genomesrs111033267
hgdprs111033267
ensemblrs111033267
gopubmedrs111033267
geneviewrs111033267
scholarrs111033267
googlers111033267
pharmgkbrs111033267
gwascentralrs111033267
openSNPrs111033267
23andMers111033267
23andMe allrs111033267
SNP Nexus

SNPshotrs111033267
SNPdbers111033267
MSV3drs111033267
GWAS Ctlgrs111033267
Max Magnitude0
OMIM606397
Desc
Variant0006
Relatedalso
ClinVar
Risk rs111033267(A,T;A,T)
Alt rs111033267(A,T;A,T)
Reference rs111033267(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CLRN1-AS1 CLRN1
CLNDBN Usher syndrome, type 3A
Reversed 1
HGVS NC_000003.11:g.150690307G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004647.4,


[PMID 12080385] USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.


[PMID 15521980] Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.