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rs80356602

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356602(C;C)
Make rs80356602(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26464868
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356602
ebirs80356602
HLIrs80356602
Exacrs80356602
Varsomers80356602
Maprs80356602
PheGenIrs80356602
hapmaprs80356602
1000 genomesrs80356602
hgdprs80356602
ensemblrs80356602
gopubmedrs80356602
geneviewrs80356602
scholarrs80356602
googlers80356602
pharmgkbrs80356602
gwascentralrs80356602
openSNPrs80356602
23andMers80356602
23andMe allrs80356602
SNP Nexus

SNPshotrs80356602
SNPdbers80356602
MSV3drs80356602
GWAS Ctlgrs80356602
Max Magnitude0
OMIM603681
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80356602(C;C)
Alt rs80356602(C;C)
Reference rs80356602(G;G)
Significance Pathogenic
Disease Auditory neuropathy Deafness
Variation info
Gene OTOF
CLNDBN Auditory neuropathy, autosomal recessive, 1 Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26687736C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006514.2, RCV000021068.1,


[PMID 12525542OA-icon.png] Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.