rs113994029

Orientation

minus

Stabilized

minus

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

Make rs113994029(C;T)

Make rs113994029(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

27368105

Gene

EIF2B4

is a	snp
is	mentioned by
dbSNP	rs113994029
dbSNP (classic)	rs113994029
ClinGen	rs113994029
ebi	rs113994029
HLI	rs113994029
Exac	rs113994029
Gnomad	rs113994029
Varsome	rs113994029
LitVar	rs113994029
Map	rs113994029
PheGenI	rs113994029
Biobank	rs113994029
1000 genomes	rs113994029
hgdp	rs113994029
ensembl	rs113994029
geneview	rs113994029
scholar	rs113994029
google	rs113994029
pharmgkb	rs113994029
gwascentral	rs113994029
openSNP	rs113994029
23andMe	rs113994029
SNPshot	rs113994029
SNPdbe	rs113994029
MSV3d	rs113994029
GWAS Ctlg	rs113994029

Max Magnitude

0

ClinVar
Risk	rs113994029(T;T)
Alt	rs113994029(T;T)
Reference	Rs113994029(C;C)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B4
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	1
HGVS	NC_000002.11:g.27590972G>A
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also