rs80356606

Orientation

minus

Stabilized

minus

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

Make rs80356606(C;G)

Make rs80356606(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26460059

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356606
dbSNP (classic)	rs80356606
ClinGen	rs80356606
ebi	rs80356606
HLI	rs80356606
Exac	rs80356606
Gnomad	rs80356606
Varsome	rs80356606
LitVar	rs80356606
Map	rs80356606
PheGenI	rs80356606
Biobank	rs80356606
1000 genomes	rs80356606
hgdp	rs80356606
ensembl	rs80356606
geneview	rs80356606
scholar	rs80356606
google	rs80356606
pharmgkb	rs80356606
gwascentral	rs80356606
openSNP	rs80356606
23andMe	rs80356606
SNPshot	rs80356606
SNPdbe	rs80356606
MSV3d	rs80356606
GWAS Ctlg	rs80356606

Max Magnitude

0

ClinVar
Risk	rs80356606(G;G)
Alt	rs80356606(G;G)
Reference	Rs80356606(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26682927G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021075.1,

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