rs80356587

Orientation

minus

Stabilized

minus

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

Make rs80356587(-;-)

Make rs80356587(-;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26480938

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356587
dbSNP (classic)	rs80356587
ClinGen	rs80356587
ebi	rs80356587
HLI	rs80356587
Exac	rs80356587
Gnomad	rs80356587
Varsome	rs80356587
LitVar	rs80356587
Map	rs80356587
PheGenI	rs80356587
Biobank	rs80356587
1000 genomes	rs80356587
hgdp	rs80356587
ensembl	rs80356587
geneview	rs80356587
scholar	rs80356587
google	rs80356587
pharmgkb	rs80356587
gwascentral	rs80356587
openSNP	rs80356587
23andMe	rs80356587
SNPshot	rs80356587
SNPdbe	rs80356587
MSV3d	rs80356587
GWAS Ctlg	rs80356587

Max Magnitude

0

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