rs74315313

Orientation

plus

Stabilized

plus

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

Make rs74315313(C;T)

Make rs74315313(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

228158476

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs74315313
dbSNP (classic)	rs74315313
ClinGen	rs74315313
ebi	rs74315313
HLI	rs74315313
Exac	rs74315313
Gnomad	rs74315313
Varsome	rs74315313
LitVar	rs74315313
Map	rs74315313
PheGenI	rs74315313
Biobank	rs74315313
1000 genomes	rs74315313
hgdp	rs74315313
ensembl	rs74315313
geneview	rs74315313
scholar	rs74315313
google	rs74315313
pharmgkb	rs74315313
gwascentral	rs74315313
openSNP	rs74315313
23andMe	rs74315313
SNPshot	rs74315313
SNPdbe	rs74315313
MSV3d	rs74315313
GWAS Ctlg	rs74315313

Max Magnitude

0

OMIM	608803
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315313(T;T)
Alt	rs74315313(T;T)
Reference	Rs74315313(C;C)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	GJC2
CLNDBN	Leukodystrophy, hypomyelinating, 2
Reversed	0
HGVS	NC_000001.10:g.228346177C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002155.4,