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rs80356605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356605(A;A)
Make rs80356605(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26460203
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356605
ebirs80356605
HLIrs80356605
Exacrs80356605
Varsomers80356605
Maprs80356605
PheGenIrs80356605
hapmaprs80356605
1000 genomesrs80356605
hgdprs80356605
ensemblrs80356605
gopubmedrs80356605
geneviewrs80356605
scholarrs80356605
googlers80356605
pharmgkbrs80356605
gwascentralrs80356605
openSNPrs80356605
23andMers80356605
23andMe allrs80356605
SNP Nexus

SNPshotrs80356605
SNPdbers80356605
MSV3drs80356605
GWAS Ctlgrs80356605
Max Magnitude0
ClinVar
Risk rs80356605(A,C;A,C)
Alt rs80356605(A,C;A,C)
Reference rs80356605(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.26683071C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006510.5, RCV000021073.1,


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