rs529500747

Orientation

plus

Stabilized

plus

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

Make rs529500747(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

20189559

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs529500747
dbSNP (classic)	rs529500747
ClinGen	rs529500747
ebi	rs529500747
HLI	rs529500747
Exac	rs529500747
Gnomad	rs529500747
Varsome	rs529500747
LitVar	rs529500747
Map	rs529500747
PheGenI	rs529500747
Biobank	rs529500747
1000 genomes	rs529500747
hgdp	rs529500747
ensembl	rs529500747
geneview	rs529500747
scholar	rs529500747
google	rs529500747
pharmgkb	rs529500747
gwascentral	rs529500747
openSNP	rs529500747
23andMe	rs529500747
SNPshot	rs529500747
SNPdbe	rs529500747
MSV3d	rs529500747
GWAS Ctlg	rs529500747

Max Magnitude

3

ClinVar
Risk	rs529500747(A;A)
Alt	rs529500747(A;A)
Reference	Rs529500747(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	GJB2
CLNDBN	not provided
Reversed	0
HGVS	NC_000013.10:g.20763698G>A
CLNSRC
CLNACC	RCV000429597.1,