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rs80356588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(AGC;AGC) 0 common in clinvar
Make rs80356588(-;-)
Make rs80356588(-;A)
Make rs80356588(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position26480228
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356588
ebirs80356588
HLIrs80356588
Exacrs80356588
Varsomers80356588
Maprs80356588
PheGenIrs80356588
hapmaprs80356588
1000 genomesrs80356588
hgdprs80356588
ensemblrs80356588
gopubmedrs80356588
geneviewrs80356588
scholarrs80356588
googlers80356588
pharmgkbrs80356588
gwascentralrs80356588
openSNPrs80356588
23andMers80356588
23andMe allrs80356588
SNP Nexus

SNPshotrs80356588
SNPdbers80356588
MSV3drs80356588
GWAS Ctlgrs80356588
Max Magnitude0
ClinVar
Risk rs80356588(A;A)
Alt rs80356588(A;A)
Reference rs80356588(AGC;AGC)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26703097dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000021039.1,


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