rs74315320

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs74315320(A;G)

Make rs74315320(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34785183

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs74315320
dbSNP (classic)	rs74315320
ClinGen	rs74315320
ebi	rs74315320
HLI	rs74315320
Exac	rs74315320
Gnomad	rs74315320
Varsome	rs74315320
LitVar	rs74315320
Map	rs74315320
PheGenI	rs74315320
Biobank	rs74315320
1000 genomes	rs74315320
hgdp	rs74315320
ensembl	rs74315320
geneview	rs74315320
scholar	rs74315320
google	rs74315320
pharmgkb	rs74315320
gwascentral	rs74315320
openSNP	rs74315320
23andMe	rs74315320
SNPshot	rs74315320
SNPdbe	rs74315320
MSV3d	rs74315320
GWAS Ctlg	rs74315320

Max Magnitude

0

OMIM	603324
Desc
Variant	0007
Related	also

ClinVar
Risk	rs74315320(G;G)
Alt	rs74315320(G;G)
Reference	Rs74315320(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB3
CLNDBN	Deafness, autosomal recessive
Reversed	0
HGVS	NC_000001.10:g.35250784A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006861.4,