rs796065028

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG;CGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG)	0	common in clinvar
(CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCC;CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCC)	0	common in clinvar

Make rs796065028(-;-)

Make rs796065028(-;CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCC)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

228158672

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs796065028
dbSNP (classic)	rs796065028
ClinGen	rs796065028
ebi	rs796065028
HLI	rs796065028
Exac	rs796065028
Gnomad	rs796065028
Varsome	rs796065028
LitVar	rs796065028
Map	rs796065028
PheGenI	rs796065028
Biobank	rs796065028
1000 genomes	rs796065028
hgdp	rs796065028
ensembl	rs796065028
geneview	rs796065028
scholar	rs796065028
google	rs796065028
pharmgkb	rs796065028
gwascentral	rs796065028
openSNP	rs796065028
23andMe	rs796065028
SNPshot	rs796065028
SNPdbe	rs796065028
MSV3d	rs796065028
GWAS Ctlg	rs796065028

Max Magnitude

0

ClinVar
Risk	rs796065028(-;-) Rs796065028(CGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG;CGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG)
Alt	rs796065028(-;-) Rs796065028(CGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG;CGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG)
Reference	Rs796065028(CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCC;CGGCCTCCGCCCCCGCCCCCGCGCCGCGGCCCCC)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	GJC2
CLNDBN	Leukodystrophy, hypomyelinating, 2
Reversed	0
HGVS	NC_000001.10:g.228346373_228346406del34
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002157.3,