rs74315321

Orientation

plus

Stabilized

plus

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

Make rs74315321(C;C)

Make rs74315321(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34784887

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs74315321
dbSNP (classic)	rs74315321
ClinGen	rs74315321
ebi	rs74315321
HLI	rs74315321
Exac	rs74315321
Gnomad	rs74315321
Varsome	rs74315321
LitVar	rs74315321
Map	rs74315321
PheGenI	rs74315321
Biobank	rs74315321
1000 genomes	rs74315321
hgdp	rs74315321
ensembl	rs74315321
geneview	rs74315321
scholar	rs74315321
google	rs74315321
pharmgkb	rs74315321
gwascentral	rs74315321
openSNP	rs74315321
23andMe	rs74315321
SNPshot	rs74315321
SNPdbe	rs74315321
MSV3d	rs74315321
GWAS Ctlg	rs74315321

Max Magnitude

0

OMIM	603324
Desc
Variant	0008
Related	also

ClinVar
Risk	rs74315321(A;A) rs74315321(C;C)
Alt	rs74315321(A;A) rs74315321(C;C)
Reference	Rs74315321(G;G)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis
Variation	info
Gene	GJB3
CLNDBN	Erythrokeratodermia variabilis
Reversed	0
HGVS	NC_000001.10:g.35250488G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006862.4,