rs80356588

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(AGC;AGC)	0	common in clinvar

Make rs80356588(-;A)

Make rs80356588(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26480228

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356588
dbSNP (classic)	rs80356588
ClinGen	rs80356588
ebi	rs80356588
HLI	rs80356588
Exac	rs80356588
Gnomad	rs80356588
Varsome	rs80356588
LitVar	rs80356588
Map	rs80356588
PheGenI	rs80356588
Biobank	rs80356588
1000 genomes	rs80356588
hgdp	rs80356588
ensembl	rs80356588
geneview	rs80356588
scholar	rs80356588
google	rs80356588
pharmgkb	rs80356588
gwascentral	rs80356588
openSNP	rs80356588
23andMe	rs80356588
SNPshot	rs80356588
SNPdbe	rs80356588
MSV3d	rs80356588
GWAS Ctlg	rs80356588

Max Magnitude

0

ClinVar
Risk	rs80356588(A;A)
Alt	rs80356588(A;A)
Reference	Rs80356588(-;-)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26703097dupT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021039.1,

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