rs111033401

Orientation

minus

Stabilized

minus

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

Make rs111033401(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189573

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs111033401
dbSNP (classic)	rs111033401
ClinGen	rs111033401
ebi	rs111033401
HLI	rs111033401
Exac	rs111033401
Gnomad	rs111033401
Varsome	rs111033401
LitVar	rs111033401
Map	rs111033401
PheGenI	rs111033401
Biobank	rs111033401
1000 genomes	rs111033401
hgdp	rs111033401
ensembl	rs111033401
geneview	rs111033401
scholar	rs111033401
google	rs111033401
pharmgkb	rs111033401
gwascentral	rs111033401
openSNP	rs111033401
23andMe	rs111033401
SNPshot	rs111033401
SNPdbe	rs111033401
MSV3d	rs111033401
GWAS Ctlg	rs111033401

Max Magnitude

3

ClinVar
Risk	rs111033401(A;A)
Alt	rs111033401(A;A)
Reference	Rs111033401(G;G)
Significance	Probable-Pathogenic
Disease	Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763712C>T
CLNSRC	ClinVar
CLNACC	RCV000037874.2,

[PMID 15832357] GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.