rs74315312

Orientation

plus

Stabilized

plus

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

Make rs74315312(C;T)

Make rs74315312(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

228158026

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs74315312
dbSNP (classic)	rs74315312
ClinGen	rs74315312
ebi	rs74315312
HLI	rs74315312
Exac	rs74315312
Gnomad	rs74315312
Varsome	rs74315312
LitVar	rs74315312
Map	rs74315312
PheGenI	rs74315312
Biobank	rs74315312
1000 genomes	rs74315312
hgdp	rs74315312
ensembl	rs74315312
geneview	rs74315312
scholar	rs74315312
google	rs74315312
pharmgkb	rs74315312
gwascentral	rs74315312
openSNP	rs74315312
23andMe	rs74315312
SNPshot	rs74315312
SNPdbe	rs74315312
MSV3d	rs74315312
GWAS Ctlg	rs74315312

Max Magnitude

0

OMIM	608803
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315312(T;T)
Alt	rs74315312(T;T)
Reference	Rs74315312(C;C)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	GJC2
CLNDBN	Leukodystrophy, hypomyelinating, 2
Reversed	0
HGVS	NC_000001.10:g.228345727C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002153.4,