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rs80356601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356601(A;A)
Make rs80356601(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26466018
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356601
ebirs80356601
HLIrs80356601
Exacrs80356601
Varsomers80356601
Maprs80356601
PheGenIrs80356601
hapmaprs80356601
1000 genomesrs80356601
hgdprs80356601
ensemblrs80356601
gopubmedrs80356601
geneviewrs80356601
scholarrs80356601
googlers80356601
pharmgkbrs80356601
gwascentralrs80356601
openSNPrs80356601
23andMers80356601
23andMe allrs80356601
SNP Nexus

SNPshotrs80356601
SNPdbers80356601
MSV3drs80356601
GWAS Ctlgrs80356601
Max Magnitude0
ClinVar
Risk rs80356601(A;A)
Alt rs80356601(A;A)
Reference rs80356601(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26688886C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021063.1,


[PMID 16226319] Results of cochlear implantation in two children with mutations in the OTOF gene.