rs74315315

Orientation

plus

Stabilized

plus

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

Make rs74315315(C;C)

Make rs74315315(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34784796

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs74315315
dbSNP (classic)	rs74315315
ClinGen	rs74315315
ebi	rs74315315
HLI	rs74315315
Exac	rs74315315
Gnomad	rs74315315
Varsome	rs74315315
LitVar	rs74315315
Map	rs74315315
PheGenI	rs74315315
Biobank	rs74315315
1000 genomes	rs74315315
hgdp	rs74315315
ensembl	rs74315315
geneview	rs74315315
scholar	rs74315315
google	rs74315315
pharmgkb	rs74315315
gwascentral	rs74315315
openSNP	rs74315315
23andMe	rs74315315
SNPshot	rs74315315
SNPdbe	rs74315315
MSV3d	rs74315315
GWAS Ctlg	rs74315315

Max Magnitude

0

OMIM	603324
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315315(A;A) rs74315315(C;C)
Alt	rs74315315(A;A) rs74315315(C;C)
Reference	Rs74315315(G;G)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis
Variation	info
Gene	GJB3
CLNDBN	Erythrokeratodermia variabilis
Reversed	0
HGVS	NC_000001.10:g.35250397G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006855.3,