rs111033295

minus

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

Make rs111033295(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189217

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033295
dbSNP (classic)	rs111033295
ClinGen	rs111033295
ebi	rs111033295
HLI	rs111033295
Exac	rs111033295
Gnomad	rs111033295
Varsome	rs111033295
LitVar	rs111033295
Map	rs111033295
PheGenI	rs111033295
Biobank	rs111033295
1000 genomes	rs111033295
hgdp	rs111033295
ensembl	rs111033295
geneview	rs111033295
scholar	rs111033295
google	rs111033295
pharmgkb	rs111033295
gwascentral	rs111033295
openSNP	rs111033295
23andMe	rs111033295
SNPshot	rs111033295
SNPdbe	rs111033295
MSV3d	rs111033295
GWAS Ctlg	rs111033295

Max Magnitude

3

ClinVar
Risk	rs111033295(C;C) rs111033295(T;T)
Alt	rs111033295(C;C) rs111033295(T;T)
Reference	Rs111033295(A;A)
Significance	Other
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 Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763356T>A
CLNSRC	HGMD
CLNACC	RCV000037844.4, RCV000080375.3, RCV000146021.1, RCV000211721.1, RCV000412394.1,

[PMID 10376574] Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

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

[PMID 17041943 ] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

[PMID 18776652] GJB2 mutations in Baluchi population.