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

rs80356600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356600(A;A)
Make rs80356600(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26466723
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356600
ebirs80356600
HLIrs80356600
Exacrs80356600
Varsomers80356600
Maprs80356600
PheGenIrs80356600
hapmaprs80356600
1000 genomesrs80356600
hgdprs80356600
ensemblrs80356600
gopubmedrs80356600
geneviewrs80356600
scholarrs80356600
googlers80356600
pharmgkbrs80356600
gwascentralrs80356600
openSNPrs80356600
23andMers80356600
23andMe allrs80356600
SNP Nexus

SNPshotrs80356600
SNPdbers80356600
MSV3drs80356600
GWAS Ctlgrs80356600
Max Magnitude0
OMIM603681
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356600(A;A)
Alt rs80356600(A;A)
Reference rs80356600(T;T)
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.26689591A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006507.2, RCV000219111.1,


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