rs111033294

minus

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

Make rs111033294(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20188965

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033294
dbSNP (classic)	rs111033294
ClinGen	rs111033294
ebi	rs111033294
HLI	rs111033294
Exac	rs111033294
Gnomad	rs111033294
Varsome	rs111033294
LitVar	rs111033294
Map	rs111033294
PheGenI	rs111033294
Biobank	rs111033294
1000 genomes	rs111033294
hgdp	rs111033294
ensembl	rs111033294
geneview	rs111033294
scholar	rs111033294
google	rs111033294
pharmgkb	rs111033294
gwascentral	rs111033294
openSNP	rs111033294
23andMe	rs111033294
SNPshot	rs111033294
SNPdbe	rs111033294
MSV3d	rs111033294
GWAS Ctlg	rs111033294

GMAF

0.0004591

Max Magnitude

3

ClinVar
Risk	rs111033294(G;G)
Alt	rs111033294(G;G)
Reference	Rs111033294(A;A)
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.20763104T>C
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000037868.4, RCV000146025.1, RCV000211783.1,

[PMID 12172394] Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

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