rs80356590

Orientation

minus

Stabilized

minus

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

Make rs80356590(C;T)

Make rs80356590(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26479356

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356590
dbSNP (classic)	rs80356590
ClinGen	rs80356590
ebi	rs80356590
HLI	rs80356590
Exac	rs80356590
Gnomad	rs80356590
Varsome	rs80356590
LitVar	rs80356590
Map	rs80356590
PheGenI	rs80356590
Biobank	rs80356590
1000 genomes	rs80356590
hgdp	rs80356590
ensembl	rs80356590
geneview	rs80356590
scholar	rs80356590
google	rs80356590
pharmgkb	rs80356590
gwascentral	rs80356590
openSNP	rs80356590
23andMe	rs80356590
SNPshot	rs80356590
SNPdbe	rs80356590
MSV3d	rs80356590
GWAS Ctlg	rs80356590

Max Magnitude

0

ClinVar
Risk	rs80356590(A;A) rs80356590(T;T)
Alt	rs80356590(A;A) rs80356590(T;T)
Reference	Rs80356590(C;C)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9 Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000002.11:g.26702224G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021043.3, RCV000211836.1,

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