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rs80356598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356598(A;A)
Make rs80356598(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26467186
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356598
ebirs80356598
HLIrs80356598
Exacrs80356598
Varsomers80356598
Maprs80356598
PheGenIrs80356598
hapmaprs80356598
1000 genomesrs80356598
hgdprs80356598
ensemblrs80356598
gopubmedrs80356598
geneviewrs80356598
scholarrs80356598
googlers80356598
pharmgkbrs80356598
gwascentralrs80356598
openSNPrs80356598
23andMers80356598
23andMe allrs80356598
SNP Nexus

SNPshotrs80356598
SNPdbers80356598
MSV3drs80356598
GWAS Ctlgrs80356598
Max Magnitude0
ClinVar
Risk rs80356598(A;A)
Alt rs80356598(A;A)
Reference rs80356598(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26690054C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021061.1,


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