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rs80356606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356606(C;G)
Make rs80356606(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26460059
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356606
ebirs80356606
HLIrs80356606
Exacrs80356606
Varsomers80356606
Maprs80356606
PheGenIrs80356606
hapmaprs80356606
1000 genomesrs80356606
hgdprs80356606
ensemblrs80356606
gopubmedrs80356606
geneviewrs80356606
scholarrs80356606
googlers80356606
pharmgkbrs80356606
gwascentralrs80356606
openSNPrs80356606
23andMers80356606
23andMe allrs80356606
SNP Nexus

SNPshotrs80356606
SNPdbers80356606
MSV3drs80356606
GWAS Ctlgrs80356606
Max Magnitude0
ClinVar
Risk rs80356606(G;G)
Alt rs80356606(G;G)
Reference rs80356606(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26682927G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000021075.1,


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