rs111033299

minus

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

Make rs111033299(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189299

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033299
dbSNP (classic)	rs111033299
ClinGen	rs111033299
ebi	rs111033299
HLI	rs111033299
Exac	rs111033299
Gnomad	rs111033299
Varsome	rs111033299
LitVar	rs111033299
Map	rs111033299
PheGenI	rs111033299
Biobank	rs111033299
1000 genomes	rs111033299
hgdp	rs111033299
ensembl	rs111033299
geneview	rs111033299
scholar	rs111033299
google	rs111033299
pharmgkb	rs111033299
gwascentral	rs111033299
openSNP	rs111033299
23andMe	rs111033299
SNPshot	rs111033299
SNPdbe	rs111033299
MSV3d	rs111033299
GWAS Ctlg	rs111033299

Max Magnitude

3

ClinVar
Risk	rs111033299(A;A)
Alt	rs111033299(A;A)
Reference	Rs111033299(G;G)
Significance	Pathogenic
Disease	Deafness Hearing impairment Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763438C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000037834.5, RCV000146014.1, RCV000211719.1,

[PMID 169315] [A case of bronchial carcinoid with carcinoid syndrome (author transl)].

[PMID 9529365 ] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

[PMID 12865758] Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

[PMID 14985372 ] A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

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

[PMID 16222667] Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.