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rs80356591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356591(-;-)
Make rs80356591(-;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26477474
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356591
ebirs80356591
HLIrs80356591
Exacrs80356591
Varsomers80356591
Maprs80356591
PheGenIrs80356591
hapmaprs80356591
1000 genomesrs80356591
hgdprs80356591
ensemblrs80356591
gopubmedrs80356591
geneviewrs80356591
scholarrs80356591
googlers80356591
pharmgkbrs80356591
gwascentralrs80356591
openSNPrs80356591
23andMers80356591
23andMe allrs80356591
SNP Nexus

SNPshotrs80356591
SNPdbers80356591
MSV3drs80356591
GWAS Ctlgrs80356591
Max Magnitude0
ClinVar
Risk rs80356591(;)
Alt rs80356591(;)
Reference rs80356591(G;G)
Significance Pathogenic
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.26700342delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000021046.4, RCV000211837.1,


[PMID 12525542OA-icon.png] Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.


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