rs80358207

Orientation

plus

Stabilized

plus

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

Make rs80358207(C;C)

Make rs80358207(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34761663

Gene	GJB4, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs80358207
dbSNP (classic)	rs80358207
ClinGen	rs80358207
ebi	rs80358207
HLI	rs80358207
Exac	rs80358207
Gnomad	rs80358207
Varsome	rs80358207
LitVar	rs80358207
Map	rs80358207
PheGenI	rs80358207
Biobank	rs80358207
1000 genomes	rs80358207
hgdp	rs80358207
ensembl	rs80358207
geneview	rs80358207
scholar	rs80358207
google	rs80358207
pharmgkb	rs80358207
gwascentral	rs80358207
openSNP	rs80358207
23andMe	rs80358207
SNPshot	rs80358207
SNPdbe	rs80358207
MSV3d	rs80358207
GWAS Ctlg	rs80358207

Max Magnitude

0

OMIM	605425
Desc
Variant	0001
Related	also

OMIM	605425
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80358207(C;C)
Alt	rs80358207(C;C)
Reference	Rs80358207(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.35227264T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005307.3,