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rs80356587

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356587(-;-)
Make rs80356587(-;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26480938
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356587
ebirs80356587
HLIrs80356587
Exacrs80356587
Varsomers80356587
Maprs80356587
PheGenIrs80356587
hapmaprs80356587
1000 genomesrs80356587
hgdprs80356587
ensemblrs80356587
gopubmedrs80356587
geneviewrs80356587
scholarrs80356587
googlers80356587
pharmgkbrs80356587
gwascentralrs80356587
openSNPrs80356587
23andMers80356587
23andMe allrs80356587
SNP Nexus

SNPshotrs80356587
SNPdbers80356587
MSV3drs80356587
GWAS Ctlgrs80356587
Max Magnitude0
ClinVar
Risk rs80356587(;)
Alt rs80356587(;)
Reference rs80356587(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26703806delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000021037.1,


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