rs80358213

Orientation

plus

Stabilized

plus

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

Make rs80358213(A;A)

Make rs80358213(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34761820

Gene	GJB4, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs80358213
dbSNP (classic)	rs80358213
ClinGen	rs80358213
ebi	rs80358213
HLI	rs80358213
Exac	rs80358213
Gnomad	rs80358213
Varsome	rs80358213
LitVar	rs80358213
Map	rs80358213
PheGenI	rs80358213
Biobank	rs80358213
1000 genomes	rs80358213
hgdp	rs80358213
ensembl	rs80358213
geneview	rs80358213
scholar	rs80358213
google	rs80358213
pharmgkb	rs80358213
gwascentral	rs80358213
openSNP	rs80358213
23andMe	rs80358213
SNPshot	rs80358213
SNPdbe	rs80358213
MSV3d	rs80358213
GWAS Ctlg	rs80358213

Max Magnitude

0

OMIM	605425
Desc
Variant	0006
Related	also

ClinVar
Risk	rs80358213(A;A)
Alt	rs80358213(A;A)
Reference	Rs80358213(T;T)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis et progressiva 2
Variation	info
Gene	GJB4
CLNDBN	Erythrokeratodermia variabilis et progressiva 2
Reversed	0
HGVS	NC_000001.10:g.35227421T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005312.3,