rs121908598

Orientation

minus

Stabilized

minus

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

Make rs121908598(C;G)

Make rs121908598(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26458074

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs121908598
dbSNP (classic)	rs121908598
ClinGen	rs121908598
ebi	rs121908598
HLI	rs121908598
Exac	rs121908598
Gnomad	rs121908598
Varsome	rs121908598
LitVar	rs121908598
Map	rs121908598
PheGenI	rs121908598
Biobank	rs121908598
1000 genomes	rs121908598
hgdp	rs121908598
ensembl	rs121908598
geneview	rs121908598
scholar	rs121908598
google	rs121908598
pharmgkb	rs121908598
gwascentral	rs121908598
openSNP	rs121908598
23andMe	rs121908598
SNPshot	rs121908598
SNPdbe	rs121908598
MSV3d	rs121908598
GWAS Ctlg	rs121908598

Max Magnitude

0

OMIM	603681
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908598(G;G)
Alt	rs121908598(G;G)
Reference	Rs121908598(C;C)
Significance	Pathogenic
Disease	Auditory neuropathy
Variation	info
Gene	OTOF
CLNDBN	Auditory neuropathy, autosomal recessive, 1
Reversed	1
HGVS	NC_000002.11:g.26680942G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006515.2,