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rs80356597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356597(A;C)
Make rs80356597(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position26473296
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356597
ebirs80356597
HLIrs80356597
Exacrs80356597
Varsomers80356597
Maprs80356597
PheGenIrs80356597
hapmaprs80356597
1000 genomesrs80356597
hgdprs80356597
ensemblrs80356597
gopubmedrs80356597
geneviewrs80356597
scholarrs80356597
googlers80356597
pharmgkbrs80356597
gwascentralrs80356597
openSNPrs80356597
23andMers80356597
23andMe allrs80356597
SNP Nexus

SNPshotrs80356597
SNPdbers80356597
MSV3drs80356597
GWAS Ctlgrs80356597
Max Magnitude0
ClinVar
Risk rs80356597(C;C)
Alt rs80356597(C;C)
Reference rs80356597(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26696164T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000021058.1,


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