rs781534323

Orientation

plus

Stabilized

plus

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

Make rs781534323(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20189336

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs781534323
dbSNP (classic)	rs781534323
ClinGen	rs781534323
ebi	rs781534323
HLI	rs781534323
Exac	rs781534323
Gnomad	rs781534323
Varsome	rs781534323
LitVar	rs781534323
Map	rs781534323
PheGenI	rs781534323
Biobank	rs781534323
1000 genomes	rs781534323
hgdp	rs781534323
ensembl	rs781534323
geneview	rs781534323
scholar	rs781534323
google	rs781534323
pharmgkb	rs781534323
gwascentral	rs781534323
openSNP	rs781534323
23andMe	rs781534323
SNPshot	rs781534323
SNPdbe	rs781534323
MSV3d	rs781534323
GWAS Ctlg	rs781534323

Max Magnitude

3

ClinVar
Risk	rs781534323(C;C)
Alt	rs781534323(C;C)
Reference	Rs781534323(G;G)
Significance	Probable-Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	0
HGVS	NC_000013.10:g.20763475G>C
CLNSRC
CLNACC	RCV000169070.1,