rs80356605

Orientation

minus

Stabilized

minus

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

Make rs80356605(A;A)

Make rs80356605(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26460203

Gene

OTOF

is a	snp
is	mentioned by
dbSNP	rs80356605
dbSNP (classic)	rs80356605
ClinGen	rs80356605
ebi	rs80356605
HLI	rs80356605
Exac	rs80356605
Gnomad	rs80356605
Varsome	rs80356605
LitVar	rs80356605
Map	rs80356605
PheGenI	rs80356605
Biobank	rs80356605
1000 genomes	rs80356605
hgdp	rs80356605
ensembl	rs80356605
geneview	rs80356605
scholar	rs80356605
google	rs80356605
pharmgkb	rs80356605
gwascentral	rs80356605
openSNP	rs80356605
23andMe	rs80356605
SNPshot	rs80356605
SNPdbe	rs80356605
MSV3d	rs80356605
GWAS Ctlg	rs80356605

Max Magnitude

0

ClinVar
Risk	rs80356605(A;A) rs80356605(C;C)
Alt	rs80356605(A;A) rs80356605(C;C)
Reference	Rs80356605(G;G)
Significance	Other
Disease	Auditory neuropathy Deafness
Variation	info
Gene	OTOF
CLNDBN	Auditory neuropathy, autosomal recessive, 1 Deafness, autosomal recessive 9
Reversed	1
HGVS	NC_000002.11:g.26683071C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006510.5, RCV000021073.1,

[PMID 12525542] Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.