rs111033190

minus

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

Make rs111033190(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189487

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033190
dbSNP (classic)	rs111033190
ClinGen	rs111033190
ebi	rs111033190
HLI	rs111033190
Exac	rs111033190
Gnomad	rs111033190
Varsome	rs111033190
LitVar	rs111033190
Map	rs111033190
PheGenI	rs111033190
Biobank	rs111033190
1000 genomes	rs111033190
hgdp	rs111033190
ensembl	rs111033190
geneview	rs111033190
scholar	rs111033190
google	rs111033190
pharmgkb	rs111033190
gwascentral	rs111033190
openSNP	rs111033190
23andMe	rs111033190
SNPshot	rs111033190
SNPdbe	rs111033190
MSV3d	rs111033190
GWAS Ctlg	rs111033190

Max Magnitude

3

ClinVar
Risk	rs111033190(A;A) rs111033190(T;T)
Alt	rs111033190(A;A) rs111033190(T;T)
Reference	Rs111033190(G;G)
Significance	Pathogenic
Disease	Nonsyndromic hearing loss and deafness Deafness
Variation	info
Gene	GJB2
CLNDBN	Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763626C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000037873.2, RCV000410025.1, RCV000411577.1,

[PMID 11584050 ] Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.