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rs80356589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356589(G;T)
Make rs80356589(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26479263
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356589
ebirs80356589
HLIrs80356589
Exacrs80356589
Varsomers80356589
Maprs80356589
PheGenIrs80356589
hapmaprs80356589
1000 genomesrs80356589
hgdprs80356589
ensemblrs80356589
gopubmedrs80356589
geneviewrs80356589
scholarrs80356589
googlers80356589
pharmgkbrs80356589
gwascentralrs80356589
openSNPrs80356589
23andMers80356589
23andMe allrs80356589
SNP Nexus

SNPshotrs80356589
SNPdbers80356589
MSV3drs80356589
GWAS Ctlgrs80356589
Max Magnitude0
ClinVar
Risk rs80356589(T;T)
Alt rs80356589(T;T)
Reference rs80356589(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26702131C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021044.1,


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