rs111033297

Orientation

minus

Stabilized

minus

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

Make rs111033297(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189413

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033297
dbSNP (classic)	rs111033297
ClinGen	rs111033297
ebi	rs111033297
HLI	rs111033297
Exac	rs111033297
Gnomad	rs111033297
Varsome	rs111033297
LitVar	rs111033297
Map	rs111033297
PheGenI	rs111033297
Biobank	rs111033297
1000 genomes	rs111033297
hgdp	rs111033297
ensembl	rs111033297
geneview	rs111033297
scholar	rs111033297
google	rs111033297
pharmgkb	rs111033297
gwascentral	rs111033297
openSNP	rs111033297
23andMe	rs111033297
SNPshot	rs111033297
SNPdbe	rs111033297
MSV3d	rs111033297
GWAS Ctlg	rs111033297

Max Magnitude

3

ClinVar
Risk	rs111033297(T;T)
Alt	rs111033297(T;T)
Reference	Rs111033297(C;C)
Significance	Pathogenic
Disease	Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763552G>A
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000211761.1,

[PMID 10353784] Connexin26 deafness in several interconnected families.

[PMID 15070423] Molecular epidemiology of DFNB1 deafness in France.

[PMID 15150777] Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.

[PMID 15967879] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

[PMID 16380907] GJB2 mutations and degree of hearing loss: a multicenter study.