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rs80356590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356590(C;T)
Make rs80356590(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26479356
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356590
ebirs80356590
HLIrs80356590
Exacrs80356590
Varsomers80356590
Maprs80356590
PheGenIrs80356590
hapmaprs80356590
1000 genomesrs80356590
hgdprs80356590
ensemblrs80356590
gopubmedrs80356590
geneviewrs80356590
scholarrs80356590
googlers80356590
pharmgkbrs80356590
gwascentralrs80356590
openSNPrs80356590
23andMers80356590
23andMe allrs80356590
SNP Nexus

SNPshotrs80356590
SNPdbers80356590
MSV3drs80356590
GWAS Ctlgrs80356590
Max Magnitude0
ClinVar
Risk rs80356590(A,T;A,T)
Alt rs80356590(A,T;A,T)
Reference rs80356590(C;C)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9 Non-syndromic genetic deafness
Reversed 1
HGVS NC_000002.11:g.26702224G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021043.3, RCV000211836.1,


[PMID 14635104] Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).