rs74315316

Orientation

plus

Stabilized

plus

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

Make rs74315316(A;A)

Make rs74315316(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34784797

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs74315316
dbSNP (classic)	rs74315316
ClinGen	rs74315316
ebi	rs74315316
HLI	rs74315316
Exac	rs74315316
Gnomad	rs74315316
Varsome	rs74315316
LitVar	rs74315316
Map	rs74315316
PheGenI	rs74315316
Biobank	rs74315316
1000 genomes	rs74315316
hgdp	rs74315316
ensembl	rs74315316
geneview	rs74315316
scholar	rs74315316
google	rs74315316
pharmgkb	rs74315316
gwascentral	rs74315316
openSNP	rs74315316
23andMe	rs74315316
SNPshot	rs74315316
SNPdbe	rs74315316
MSV3d	rs74315316
GWAS Ctlg	rs74315316

Max Magnitude

0

OMIM	603324
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315316(A;A)
Alt	rs74315316(A;A)
Reference	Rs74315316(G;G)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis
Variation	info
Gene	GJB3
CLNDBN	Erythrokeratodermia variabilis
Reversed	0
HGVS	NC_000001.10:g.35250398G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006856.3,