rs80356599

Orientation

minus

Stabilized

minus

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

Make rs80356599(G;G)

Make rs80356599(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26466712

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356599
dbSNP (classic)	rs80356599
ClinGen	rs80356599
ebi	rs80356599
HLI	rs80356599
Exac	rs80356599
Gnomad	rs80356599
Varsome	rs80356599
LitVar	rs80356599
Map	rs80356599
PheGenI	rs80356599
Biobank	rs80356599
1000 genomes	rs80356599
hgdp	rs80356599
ensembl	rs80356599
geneview	rs80356599
scholar	rs80356599
google	rs80356599
pharmgkb	rs80356599
gwascentral	rs80356599
openSNP	rs80356599
23andMe	rs80356599
SNPshot	rs80356599
SNPdbe	rs80356599
MSV3d	rs80356599
GWAS Ctlg	rs80356599

Max Magnitude

0

ClinVar
Risk	rs80356599(G;G)
Alt	rs80356599(G;G)
Reference	Rs80356599(T;T)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26689580A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021062.1,

[PMID 14635104] Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).