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rs80356599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356599(G;G)
Make rs80356599(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26466712
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356599
ebirs80356599
HLIrs80356599
Exacrs80356599
Varsomers80356599
Maprs80356599
PheGenIrs80356599
hapmaprs80356599
1000 genomesrs80356599
hgdprs80356599
ensemblrs80356599
gopubmedrs80356599
geneviewrs80356599
scholarrs80356599
googlers80356599
pharmgkbrs80356599
gwascentralrs80356599
openSNPrs80356599
23andMers80356599
23andMe allrs80356599
SNP Nexus

SNPshotrs80356599
SNPdbers80356599
MSV3drs80356599
GWAS Ctlgrs80356599
Max Magnitude0
ClinVar
Risk rs80356599(G;G)
Alt rs80356599(G;G)
Reference rs80356599(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26689580A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000021062.1,


[PMID 14635104] Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).