rs796065027

Orientation

plus

Stabilized

plus

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

Make rs796065027(-;-)

Make rs796065027(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

228158747

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs796065027
dbSNP (classic)	rs796065027
ClinGen	rs796065027
ebi	rs796065027
HLI	rs796065027
Exac	rs796065027
Gnomad	rs796065027
Varsome	rs796065027
LitVar	rs796065027
Map	rs796065027
PheGenI	rs796065027
Biobank	rs796065027
1000 genomes	rs796065027
hgdp	rs796065027
ensembl	rs796065027
geneview	rs796065027
scholar	rs796065027
google	rs796065027
pharmgkb	rs796065027
gwascentral	rs796065027
openSNP	rs796065027
23andMe	rs796065027
SNPshot	rs796065027
SNPdbe	rs796065027
MSV3d	rs796065027
GWAS Ctlg	rs796065027

Max Magnitude

0

ClinVar
Risk	rs796065027(-;-)
Alt	rs796065027(-;-)
Reference	Rs796065027(C;C)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	GJC2
CLNDBN	Leukodystrophy, hypomyelinating, 2
Reversed	0
HGVS	NC_000001.10:g.228346448delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002154.3,