rs794729675

Orientation

plus

Stabilized

plus

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

Make rs794729675(C;T)

Make rs794729675(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

121446978

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs794729675
dbSNP (classic)	rs794729675
ClinGen	rs794729675
ebi	rs794729675
HLI	rs794729675
Exac	rs794729675
Gnomad	rs794729675
Varsome	rs794729675
LitVar	rs794729675
Map	rs794729675
PheGenI	rs794729675
Biobank	rs794729675
1000 genomes	rs794729675
hgdp	rs794729675
ensembl	rs794729675
geneview	rs794729675
scholar	rs794729675
google	rs794729675
pharmgkb	rs794729675
gwascentral	rs794729675
openSNP	rs794729675
23andMe	rs794729675
SNPshot	rs794729675
SNPdbe	rs794729675
MSV3d	rs794729675
GWAS Ctlg	rs794729675

Max Magnitude

0

ClinVar
Risk	rs794729675(T;T)
Alt	rs794729675(T;T)
Reference	Rs794729675(C;C)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis et progressiva 3
Variation	info
Gene	GJA1
CLNDBN	Erythrokeratodermia variabilis et progressiva 3
Reversed	0
HGVS	NC_000006.11:g.121768124C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000185625.3,