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rs80356592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356592(A;A)
Make rs80356592(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26477441
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356592
ebirs80356592
HLIrs80356592
Exacrs80356592
Varsomers80356592
Maprs80356592
PheGenIrs80356592
hapmaprs80356592
1000 genomesrs80356592
hgdprs80356592
ensemblrs80356592
gopubmedrs80356592
geneviewrs80356592
scholarrs80356592
googlers80356592
pharmgkbrs80356592
gwascentralrs80356592
openSNPrs80356592
23andMers80356592
23andMe allrs80356592
SNP Nexus

SNPshotrs80356592
SNPdbers80356592
MSV3drs80356592
GWAS Ctlgrs80356592
GMAF0.003673
Max Magnitude0
ClinVar
Risk rs80356592(A;A)
Alt rs80356592(A;A)
Reference rs80356592(G;G)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9 not specified
Reversed 1
HGVS NC_000002.11:g.26700309C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021047.1, RCV000041494.3,


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