rs74315314

Orientation

plus

Stabilized

plus

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

Make rs74315314(G;G)

Make rs74315314(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

228158572

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs74315314
dbSNP (classic)	rs74315314
ClinGen	rs74315314
ebi	rs74315314
HLI	rs74315314
Exac	rs74315314
Gnomad	rs74315314
Varsome	rs74315314
LitVar	rs74315314
Map	rs74315314
PheGenI	rs74315314
Biobank	rs74315314
1000 genomes	rs74315314
hgdp	rs74315314
ensembl	rs74315314
geneview	rs74315314
scholar	rs74315314
google	rs74315314
pharmgkb	rs74315314
gwascentral	rs74315314
openSNP	rs74315314
23andMe	rs74315314
SNPshot	rs74315314
SNPdbe	rs74315314
MSV3d	rs74315314
GWAS Ctlg	rs74315314

Max Magnitude

0

OMIM	608803
Desc
Variant	0005
Related	also

ClinVar
Risk	rs74315314(G;G)
Alt	rs74315314(G;G)
Reference	Rs74315314(T;T)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	GJC2
CLNDBN	Leukodystrophy, hypomyelinating, 2
Reversed	0
HGVS	NC_000001.10:g.228346273T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002156.4,