rs863225050

Orientation

minus

Stabilized

minus

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

Make rs863225050(A;G)

Make rs863225050(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

123630210

Gene

EIF2B1

is a	snp
is	mentioned by
dbSNP	rs863225050
dbSNP (classic)	rs863225050
ClinGen	rs863225050
ebi	rs863225050
HLI	rs863225050
Exac	rs863225050
Gnomad	rs863225050
Varsome	rs863225050
LitVar	rs863225050
Map	rs863225050
PheGenI	rs863225050
Biobank	rs863225050
1000 genomes	rs863225050
hgdp	rs863225050
ensembl	rs863225050
geneview	rs863225050
scholar	rs863225050
google	rs863225050
pharmgkb	rs863225050
gwascentral	rs863225050
openSNP	rs863225050
23andMe	rs863225050
SNPshot	rs863225050
SNPdbe	rs863225050
MSV3d	rs863225050
GWAS Ctlg	rs863225050

Max Magnitude

0

ClinVar
Risk	rs863225050(G;G)
Alt	rs863225050(G;G)
Reference	Rs863225050(A;A)
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.124114757T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000201227.2,