rs104894398

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a recessive deafness mutation

Make rs104894398(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189443

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs104894398
dbSNP (classic)	rs104894398
ClinGen	rs104894398
ebi	rs104894398
HLI	rs104894398
Exac	rs104894398
Gnomad	rs104894398
Varsome	rs104894398
LitVar	rs104894398
Map	rs104894398
PheGenI	rs104894398
Biobank	rs104894398
1000 genomes	rs104894398
hgdp	rs104894398
ensembl	rs104894398
geneview	rs104894398
scholar	rs104894398
google	rs104894398
pharmgkb	rs104894398
gwascentral	rs104894398
openSNP	rs104894398
23andMe	rs104894398
SNPshot	rs104894398
SNPdbe	rs104894398
MSV3d	rs104894398
GWAS Ctlg	rs104894398

Max Magnitude

3

OMIM	121011
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894398(T;T)
Alt	rs104894398(T;T)
Reference	Rs104894398(G;G)
Significance	Pathogenic
Disease	Deafness not provided Hearing impairment Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A not provided Hearing impairment Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763582C>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000018529.34, RCV000080366.3, RCV000146008.1, RCV000211760.1,

[PMID 9336442] Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

[PMID 10905664] Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.

[PMID 11556849] Connexin 26 studies in patients with sensorineural hearing loss.