rs80358210

Orientation

plus

Stabilized

plus

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

Make rs80358210(A;C)

Make rs80358210(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34761507

Gene	GJB4, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs80358210
dbSNP (classic)	rs80358210
ClinGen	rs80358210
ebi	rs80358210
HLI	rs80358210
Exac	rs80358210
Gnomad	rs80358210
Varsome	rs80358210
LitVar	rs80358210
Map	rs80358210
PheGenI	rs80358210
Biobank	rs80358210
1000 genomes	rs80358210
hgdp	rs80358210
ensembl	rs80358210
geneview	rs80358210
scholar	rs80358210
google	rs80358210
pharmgkb	rs80358210
gwascentral	rs80358210
openSNP	rs80358210
23andMe	rs80358210
SNPshot	rs80358210
SNPdbe	rs80358210
MSV3d	rs80358210
GWAS Ctlg	rs80358210

Max Magnitude

0

OMIM	605425
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80358210(C;C)
Alt	rs80358210(C;C)
Reference	Rs80358210(A;A)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis et progressiva 2 not provided
Variation	info
Gene	GJB4
CLNDBN	Erythrokeratodermia variabilis et progressiva 2 not provided
Reversed	0
HGVS	NC_000001.10:g.35227108A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005309.3, RCV000413053.1,