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rs80356585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356585(A;A)
Make rs80356585(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position26482516
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356585
ebirs80356585
HLIrs80356585
Exacrs80356585
Varsomers80356585
Maprs80356585
PheGenIrs80356585
hapmaprs80356585
1000 genomesrs80356585
hgdprs80356585
ensemblrs80356585
gopubmedrs80356585
geneviewrs80356585
scholarrs80356585
googlers80356585
pharmgkbrs80356585
gwascentralrs80356585
openSNPrs80356585
23andMers80356585
23andMe allrs80356585
SNP Nexus

SNPshotrs80356585
SNPdbers80356585
MSV3drs80356585
GWAS Ctlgrs80356585
Max Magnitude0
ClinVar
Risk rs80356585(A,G,T;A,G,T)
Alt rs80356585(A,G,T;A,G,T)
Reference rs80356585(C;C)
Significance Pathogenic
Disease not specified Deafness
Variation info
Gene OTOF
CLNDBN not specified Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26705384G>C; NC_000002.11:g.26705384G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000041460.2, RCV000021034.1,


[PMID 12127154] Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.