rs863225048

Orientation

minus

Stabilized

minus

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

Make rs863225048(G;T)

Make rs863225048(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

123626429

Gene

EIF2B1

is a	snp
is	mentioned by
dbSNP	rs863225048
dbSNP (classic)	rs863225048
ClinGen	rs863225048
ebi	rs863225048
HLI	rs863225048
Exac	rs863225048
Gnomad	rs863225048
Varsome	rs863225048
LitVar	rs863225048
Map	rs863225048
PheGenI	rs863225048
Biobank	rs863225048
1000 genomes	rs863225048
hgdp	rs863225048
ensembl	rs863225048
geneview	rs863225048
scholar	rs863225048
google	rs863225048
pharmgkb	rs863225048
gwascentral	rs863225048
openSNP	rs863225048
23andMe	rs863225048
SNPshot	rs863225048
SNPdbe	rs863225048
MSV3d	rs863225048
GWAS Ctlg	rs863225048

Max Magnitude

0

ClinVar
Risk	rs863225048(T;T)
Alt	rs863225048(T;T)
Reference	Rs863225048(G;G)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B1
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	1
HGVS	NC_000012.11:g.124110976C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000201228.2,