Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356584(A;G)
Make rs80356584(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26495075
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356584
ebirs80356584
HLIrs80356584
Exacrs80356584
Varsomers80356584
Maprs80356584
PheGenIrs80356584
hapmaprs80356584
1000 genomesrs80356584
hgdprs80356584
ensemblrs80356584
gopubmedrs80356584
geneviewrs80356584
scholarrs80356584
googlers80356584
pharmgkbrs80356584
gwascentralrs80356584
openSNPrs80356584
23andMers80356584
23andMe allrs80356584
SNP Nexus

SNPshotrs80356584
SNPdbers80356584
MSV3drs80356584
GWAS Ctlgrs80356584
Max Magnitude0
OMIM603681
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356584(G;G)
Alt rs80356584(G;G)
Reference rs80356584(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26717943T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006508.2,


[PMID 10903124OA-icon.png] OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.