rs80356602

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80356602(C;C)

Make rs80356602(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26464868

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356602
dbSNP (classic)	rs80356602
ClinGen	rs80356602
ebi	rs80356602
HLI	rs80356602
Exac	rs80356602
Gnomad	rs80356602
Varsome	rs80356602
LitVar	rs80356602
Map	rs80356602
PheGenI	rs80356602
Biobank	rs80356602
1000 genomes	rs80356602
hgdp	rs80356602
ensembl	rs80356602
geneview	rs80356602
scholar	rs80356602
google	rs80356602
pharmgkb	rs80356602
gwascentral	rs80356602
openSNP	rs80356602
23andMe	rs80356602
SNPshot	rs80356602
SNPdbe	rs80356602
MSV3d	rs80356602
GWAS Ctlg	rs80356602

Max Magnitude

0

OMIM	603681
Desc
Variant	0008
Related	also

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