rs80356589

Orientation

minus

Stabilized

minus

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

Make rs80356589(G;T)

Make rs80356589(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26479263

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356589
dbSNP (classic)	rs80356589
ClinGen	rs80356589
ebi	rs80356589
HLI	rs80356589
Exac	rs80356589
Gnomad	rs80356589
Varsome	rs80356589
LitVar	rs80356589
Map	rs80356589
PheGenI	rs80356589
Biobank	rs80356589
1000 genomes	rs80356589
hgdp	rs80356589
ensembl	rs80356589
geneview	rs80356589
scholar	rs80356589
google	rs80356589
pharmgkb	rs80356589
gwascentral	rs80356589
openSNP	rs80356589
23andMe	rs80356589
SNPshot	rs80356589
SNPdbe	rs80356589
MSV3d	rs80356589
GWAS Ctlg	rs80356589

Max Magnitude

0

ClinVar
Risk	rs80356589(T;T)
Alt	rs80356589(T;T)
Reference	Rs80356589(G;G)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26702131C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021044.1,

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