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rs80356596

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356596(C;C)
Make rs80356596(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26475453
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356596
ebirs80356596
HLIrs80356596
Exacrs80356596
Varsomers80356596
Maprs80356596
PheGenIrs80356596
hapmaprs80356596
1000 genomesrs80356596
hgdprs80356596
ensemblrs80356596
gopubmedrs80356596
geneviewrs80356596
scholarrs80356596
googlers80356596
pharmgkbrs80356596
gwascentralrs80356596
openSNPrs80356596
23andMers80356596
23andMe allrs80356596
SNP Nexus

SNPshotrs80356596
SNPdbers80356596
MSV3drs80356596
GWAS Ctlgrs80356596
Max Magnitude0
OMIM603681
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80356596(C;C)
Alt rs80356596(C;C)
Reference rs80356596(T;T)
Significance Pathogenic
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.26698321A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006516.2, RCV000021054.1,


[PMID 10192385] A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.


[PMID 16097006] A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.