rs80356584

Orientation

minus

Stabilized

minus

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

Make rs80356584(A;G)

Make rs80356584(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26495075

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356584
dbSNP (classic)	rs80356584
ClinGen	rs80356584
ebi	rs80356584
HLI	rs80356584
Exac	rs80356584
Gnomad	rs80356584
Varsome	rs80356584
LitVar	rs80356584
Map	rs80356584
PheGenI	rs80356584
Biobank	rs80356584
1000 genomes	rs80356584
hgdp	rs80356584
ensembl	rs80356584
geneview	rs80356584
scholar	rs80356584
google	rs80356584
pharmgkb	rs80356584
gwascentral	rs80356584
openSNP	rs80356584
23andMe	rs80356584
SNPshot	rs80356584
SNPdbe	rs80356584
MSV3d	rs80356584
GWAS Ctlg	rs80356584

Max Magnitude

0

OMIM	603681
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80356584(G;G)
Alt	rs80356584(G;G)
Reference	Rs80356584(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26717943T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006508.2,

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