rs397515593

Orientation

minus

Stabilized

minus

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

Make rs397515593(A;A)

Make rs397515593(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26476918

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs397515593
dbSNP (classic)	rs397515593
ClinGen	rs397515593
ebi	rs397515593
HLI	rs397515593
Exac	rs397515593
Gnomad	rs397515593
Varsome	rs397515593
LitVar	rs397515593
Map	rs397515593
PheGenI	rs397515593
Biobank	rs397515593
1000 genomes	rs397515593
hgdp	rs397515593
ensembl	rs397515593
geneview	rs397515593
scholar	rs397515593
google	rs397515593
pharmgkb	rs397515593
gwascentral	rs397515593
openSNP	rs397515593
23andMe	rs397515593
SNPshot	rs397515593
SNPdbe	rs397515593
MSV3d	rs397515593
GWAS Ctlg	rs397515593

Max Magnitude

0

ClinVar
Risk	rs397515593(A;A) rs397515593(T;T)
Alt	rs397515593(A;A) rs397515593(T;T)
Reference	Rs397515593(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26699786G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056029.1,