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rs80356586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356586(C;C)
Make rs80356586(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26482441
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356586
ebirs80356586
HLIrs80356586
Exacrs80356586
Varsomers80356586
Maprs80356586
PheGenIrs80356586
hapmaprs80356586
1000 genomesrs80356586
hgdprs80356586
ensemblrs80356586
gopubmedrs80356586
geneviewrs80356586
scholarrs80356586
googlers80356586
pharmgkbrs80356586
gwascentralrs80356586
openSNPrs80356586
23andMers80356586
23andMe allrs80356586
SNP Nexus

SNPshotrs80356586
SNPdbers80356586
MSV3drs80356586
GWAS Ctlgrs80356586
Max Magnitude0
OMIM603681
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80356586(C;C)
Alt rs80356586(C;C)
Reference rs80356586(T;T)
Significance Other
Disease Auditory neuropathy Deafness
Variation info
Gene OTOF
CLNDBN Auditory neuropathy, autosomal recessive, 1 Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26705309A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006517.2, RCV000021035.5,


[PMID 9657592] Transient deafness due to temperature-sensitive auditory neuropathy.

[PMID 12127154] Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.

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