rs104894402

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	Deafness mutation (dominant)

Make rs104894402(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189359

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894402
dbSNP (classic)	rs104894402
ClinGen	rs104894402
ebi	rs104894402
HLI	rs104894402
Exac	rs104894402
Gnomad	rs104894402
Varsome	rs104894402
LitVar	rs104894402
Map	rs104894402
PheGenI	rs104894402
Biobank	rs104894402
1000 genomes	rs104894402
hgdp	rs104894402
ensembl	rs104894402
geneview	rs104894402
scholar	rs104894402
google	rs104894402
pharmgkb	rs104894402
gwascentral	rs104894402
openSNP	rs104894402
23andMe	rs104894402
SNPshot	rs104894402
SNPdbe	rs104894402
MSV3d	rs104894402
GWAS Ctlg	rs104894402

Max Magnitude

4

OMIM	121011
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894402(T;T)
Alt	rs104894402(T;T)
Reference	Rs104894402(C;C)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763498G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018535.31, RCV000211763.1,