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rs80356595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356595(C;T)
Make rs80356595(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26476018
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356595
ebirs80356595
HLIrs80356595
Exacrs80356595
Varsomers80356595
Maprs80356595
PheGenIrs80356595
hapmaprs80356595
1000 genomesrs80356595
hgdprs80356595
ensemblrs80356595
gopubmedrs80356595
geneviewrs80356595
scholarrs80356595
googlers80356595
pharmgkbrs80356595
gwascentralrs80356595
openSNPrs80356595
23andMers80356595
23andMe allrs80356595
SNP Nexus

SNPshotrs80356595
SNPdbers80356595
MSV3drs80356595
GWAS Ctlgrs80356595
Max Magnitude0
ClinVar
Risk rs80356595(T;T)
Alt rs80356595(T;T)
Reference rs80356595(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26698886G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021052.1,


[PMID 16283880] Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.