rs113994067

Orientation

plus

Stabilized

plus

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

Make rs113994067(C;C)

Make rs113994067(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184140577

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994067
dbSNP (classic)	rs113994067
ClinGen	rs113994067
ebi	rs113994067
HLI	rs113994067
Exac	rs113994067
Gnomad	rs113994067
Varsome	rs113994067
LitVar	rs113994067
Map	rs113994067
PheGenI	rs113994067
Biobank	rs113994067
1000 genomes	rs113994067
hgdp	rs113994067
ensembl	rs113994067
geneview	rs113994067
scholar	rs113994067
google	rs113994067
pharmgkb	rs113994067
gwascentral	rs113994067
openSNP	rs113994067
23andMe	rs113994067
SNPshot	rs113994067
SNPdbe	rs113994067
MSV3d	rs113994067
GWAS Ctlg	rs113994067

Max Magnitude

0

ClinVar
Risk	rs113994067(C;C)
Alt	rs113994067(C;C)
Reference	Rs113994067(T;T)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B5
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	0
HGVS	NC_000003.11:g.183858365T>C
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also