rs80356585

Orientation

minus

Stabilized

minus

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

Make rs80356585(A;A)

Make rs80356585(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26482516

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356585
dbSNP (classic)	rs80356585
ClinGen	rs80356585
ebi	rs80356585
HLI	rs80356585
Exac	rs80356585
Gnomad	rs80356585
Varsome	rs80356585
LitVar	rs80356585
Map	rs80356585
PheGenI	rs80356585
Biobank	rs80356585
1000 genomes	rs80356585
hgdp	rs80356585
ensembl	rs80356585
geneview	rs80356585
scholar	rs80356585
google	rs80356585
pharmgkb	rs80356585
gwascentral	rs80356585
openSNP	rs80356585
23andMe	rs80356585
SNPshot	rs80356585
SNPdbe	rs80356585
MSV3d	rs80356585
GWAS Ctlg	rs80356585

Max Magnitude

0

ClinVar
Risk	rs80356585(A;A) rs80356585(G;G) rs80356585(T;T)
Alt	rs80356585(A;A) rs80356585(G;G) rs80356585(T;T)
Reference	Rs80356585(C;C)
Significance	Pathogenic
Disease	not specified Deafness
Variation	info
Gene	OTOF
CLNDBN	not specified Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26705384G>C; NC_000002.11:g.26705384G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000041460.2, RCV000021034.1,

[PMID 12127154] Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.