rs80356595

Orientation

minus

Stabilized

minus

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

Make rs80356595(C;T)

Make rs80356595(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26476018

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356595
dbSNP (classic)	rs80356595
ClinGen	rs80356595
ebi	rs80356595
HLI	rs80356595
Exac	rs80356595
Gnomad	rs80356595
Varsome	rs80356595
LitVar	rs80356595
Map	rs80356595
PheGenI	rs80356595
Biobank	rs80356595
1000 genomes	rs80356595
hgdp	rs80356595
ensembl	rs80356595
geneview	rs80356595
scholar	rs80356595
google	rs80356595
pharmgkb	rs80356595
gwascentral	rs80356595
openSNP	rs80356595
23andMe	rs80356595
SNPshot	rs80356595
SNPdbe	rs80356595
MSV3d	rs80356595
GWAS Ctlg	rs80356595

Max Magnitude

0

ClinVar
Risk	rs80356595(T;T)
Alt	rs80356595(T;T)
Reference	Rs80356595(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26698886G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021052.1,

[PMID 16283880] Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.