rs111033204

Orientation

minus

Stabilized

minus

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

Make rs111033204(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189282

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033204
dbSNP (classic)	rs111033204
ClinGen	rs111033204
ebi	rs111033204
HLI	rs111033204
Exac	rs111033204
Gnomad	rs111033204
Varsome	rs111033204
LitVar	rs111033204
Map	rs111033204
PheGenI	rs111033204
Biobank	rs111033204
1000 genomes	rs111033204
hgdp	rs111033204
ensembl	rs111033204
geneview	rs111033204
scholar	rs111033204
google	rs111033204
pharmgkb	rs111033204
gwascentral	rs111033204
openSNP	rs111033204
23andMe	rs111033204
SNPshot	rs111033204
SNPdbe	rs111033204
MSV3d	rs111033204
GWAS Ctlg	rs111033204

Max Magnitude

3

ClinVar
Risk	rs111033204(-;-)
Alt	rs111033204(-;-)
Reference	Rs111033204(AT;AT)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness not provided
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness not provided
Reversed	1
HGVS	NC_000013.10:g.20763421_20763422delAT
CLNSRC	ClinVar
CLNACC	RCV000037835.5, RCV000211773.1, RCV000255698.1,

[PMID 10633133] Prevalent connexin 26 gene (GJB2) mutations in Japanese.

[PMID 10983956] Connexin26 mutations associated with nonsyndromic hearing loss.

[PMID 11385713] Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.

[PMID 11438992] Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

[PMID 12111646] Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.