rs398123814

Orientation

minus

Stabilized

minus

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

Make rs398123814(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189546

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs398123814
dbSNP (classic)	rs398123814
ClinGen	rs398123814
ebi	rs398123814
HLI	rs398123814
Exac	rs398123814
Gnomad	rs398123814
Varsome	rs398123814
LitVar	rs398123814
Map	rs398123814
PheGenI	rs398123814
Biobank	rs398123814
1000 genomes	rs398123814
hgdp	rs398123814
ensembl	rs398123814
geneview	rs398123814
scholar	rs398123814
google	rs398123814
pharmgkb	rs398123814
gwascentral	rs398123814
openSNP	rs398123814
23andMe	rs398123814
SNPshot	rs398123814
SNPdbe	rs398123814
MSV3d	rs398123814
GWAS Ctlg	rs398123814

Max Magnitude

3

ClinVar
Risk	rs398123814(G;G)
Alt	rs398123814(G;G)
Reference	Rs398123814(-;-)
Significance	Other
Disease	not provided Deafness
Variation	info
Gene	GJB2
CLNDBN	not provided Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763686dupC
CLNSRC	HGMD
CLNACC	RCV000080374.3, RCV000169169.2,