rs111033253

Orientation

minus

Stabilized

minus

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

Make rs111033253(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189256

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033253
dbSNP (classic)	rs111033253
ClinGen	rs111033253
ebi	rs111033253
HLI	rs111033253
Exac	rs111033253
Gnomad	rs111033253
Varsome	rs111033253
LitVar	rs111033253
Map	rs111033253
PheGenI	rs111033253
Biobank	rs111033253
1000 genomes	rs111033253
hgdp	rs111033253
ensembl	rs111033253
geneview	rs111033253
scholar	rs111033253
google	rs111033253
pharmgkb	rs111033253
gwascentral	rs111033253
openSNP	rs111033253
23andMe	rs111033253
SNPshot	rs111033253
SNPdbe	rs111033253
MSV3d	rs111033253
GWAS Ctlg	rs111033253

Max Magnitude

3

ClinVar
Risk	rs111033253(-;-)
Alt	rs111033253(-;-)
Reference	Rs111033253(AAGTTCATCAAGGG;AAGTTCATCAAGGG)
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.20763395_20763408delCCCTTGATGAACTT
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000037836.6, RCV000080370.4, RCV000146016.1, RCV000211774.1,

[PMID 16379] Cation binding by tobacco mosaic virus.

[PMID 11551103] High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

[PMID 12112666] Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.

[PMID 15146474] GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

[PMID 15253766] Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.

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