rs28937583

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in complete genomics

Make rs28937583(C;C)

Make rs28937583(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34784863

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs28937583
dbSNP (classic)	rs28937583
ClinGen	rs28937583
ebi	rs28937583
HLI	rs28937583
Exac	rs28937583
Gnomad	rs28937583
Varsome	rs28937583
LitVar	rs28937583
Map	rs28937583
PheGenI	rs28937583
Biobank	rs28937583
1000 genomes	rs28937583
hgdp	rs28937583
ensembl	rs28937583
geneview	rs28937583
scholar	rs28937583
google	rs28937583
pharmgkb	rs28937583
gwascentral	rs28937583
openSNP	rs28937583
23andMe	rs28937583
SNPshot	rs28937583
SNPdbe	rs28937583
MSV3d	rs28937583
GWAS Ctlg	rs28937583

Max Magnitude

0

OMIM	603324
Desc	ERYTHROKERATODERMIA VARIABILIS, AUTOSOMAL RECESSIVE
Variant	0010
Related	also

ClinVar
Risk	rs28937583(C;C)
Alt	rs28937583(C;C)
Reference	Rs28937583(T;T)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis
Variation	info
Gene	GJB3
CLNDBN	Erythrokeratodermia variabilis
Reversed	0
HGVS	NC_000001.10:g.35250464T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006864.3,