rs80356600

Orientation

minus

Stabilized

minus

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

Make rs80356600(A;A)

Make rs80356600(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26466723

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356600
dbSNP (classic)	rs80356600
ClinGen	rs80356600
ebi	rs80356600
HLI	rs80356600
Exac	rs80356600
Gnomad	rs80356600
Varsome	rs80356600
LitVar	rs80356600
Map	rs80356600
PheGenI	rs80356600
Biobank	rs80356600
1000 genomes	rs80356600
hgdp	rs80356600
ensembl	rs80356600
geneview	rs80356600
scholar	rs80356600
google	rs80356600
pharmgkb	rs80356600
gwascentral	rs80356600
openSNP	rs80356600
23andMe	rs80356600
SNPshot	rs80356600
SNPdbe	rs80356600
MSV3d	rs80356600
GWAS Ctlg	rs80356600

Max Magnitude

0

OMIM	603681
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356600(A;A)
Alt	rs80356600(A;A)
Reference	Rs80356600(T;T)
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.26689591A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006507.2, RCV000219111.1,

[PMID 10903124] OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.