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rs80356593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356593(C;T)
Make rs80356593(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26477210
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356593
ebirs80356593
HLIrs80356593
Exacrs80356593
Varsomers80356593
Maprs80356593
PheGenIrs80356593
hapmaprs80356593
1000 genomesrs80356593
hgdprs80356593
ensemblrs80356593
gopubmedrs80356593
geneviewrs80356593
scholarrs80356593
googlers80356593
pharmgkbrs80356593
gwascentralrs80356593
openSNPrs80356593
23andMers80356593
23andMe allrs80356593
SNP Nexus

SNPshotrs80356593
SNPdbers80356593
MSV3drs80356593
GWAS Ctlgrs80356593
GMAF0.0004591
Max Magnitude0
OMIM603681
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356593(T;T)
Alt rs80356593(T;T)
Reference rs80356593(C;C)
Significance Other
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9 Non-syndromic genetic deafness
Reversed 1
HGVS NC_000002.11:g.26700078G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006511.5, RCV000211838.1,


[PMID 12114484OA-icon.png] Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.


[PMID 14635104] Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).


[PMID 16371502OA-icon.png] OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.