rs147321712

Orientation

plus

Stabilized

plus

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

Make rs147321712(G;T)

Make rs147321712(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26466731

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs147321712
dbSNP (classic)	rs147321712
ClinGen	rs147321712
ebi	rs147321712
HLI	rs147321712
Exac	rs147321712
Gnomad	rs147321712
Varsome	rs147321712
LitVar	rs147321712
Map	rs147321712
PheGenI	rs147321712
Biobank	rs147321712
1000 genomes	rs147321712
hgdp	rs147321712
ensembl	rs147321712
geneview	rs147321712
scholar	rs147321712
google	rs147321712
pharmgkb	rs147321712
gwascentral	rs147321712
openSNP	rs147321712
23andMe	rs147321712
SNPshot	rs147321712
SNPdbe	rs147321712
MSV3d	rs147321712
GWAS Ctlg	rs147321712

Max Magnitude

0

ClinVar
Risk	rs147321712(A;A) rs147321712(T;T)
Alt	rs147321712(A;A) rs147321712(T;T)
Reference	Rs147321712(G;G)
Significance	Pathogenic
Disease	Deafness Hearing impairment not specified
Variation	info
Gene	OTOF
CLNDBN	Deafness, autosomal recessive 9 Hearing impairment not specified
Reversed	0
HGVS	NC_000002.11:g.26689599G>A; NC_000002.11:g.26689599G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056043.1, RCV000414855.1, RCV000155254.1,