rs200023879

Orientation

plus

Stabilized

plus

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

Make rs200023879(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20189374

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs200023879
dbSNP (classic)	rs200023879
ClinGen	rs200023879
ebi	rs200023879
HLI	rs200023879
Exac	rs200023879
Gnomad	rs200023879
Varsome	rs200023879
LitVar	rs200023879
Map	rs200023879
PheGenI	rs200023879
Biobank	rs200023879
1000 genomes	rs200023879
hgdp	rs200023879
ensembl	rs200023879
geneview	rs200023879
scholar	rs200023879
google	rs200023879
pharmgkb	rs200023879
gwascentral	rs200023879
openSNP	rs200023879
23andMe	rs200023879
SNPshot	rs200023879
SNPdbe	rs200023879
MSV3d	rs200023879
GWAS Ctlg	rs200023879

Max Magnitude

3

ClinVar
Risk	rs200023879(C;C)
Alt	rs200023879(C;C)
Reference	Rs200023879(G;G)
Significance	Pathogenic
Disease	Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Nonsyndromic hearing loss and deafness
Reversed	0
HGVS	NC_000013.10:g.20763513G>C
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000168671.2,