rs113994079

Orientation

plus

Stabilized

plus

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

Make rs113994079(C;C)

Make rs113994079(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184142057

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994079
dbSNP (classic)	rs113994079
ClinGen	rs113994079
ebi	rs113994079
HLI	rs113994079
Exac	rs113994079
Gnomad	rs113994079
Varsome	rs113994079
LitVar	rs113994079
Map	rs113994079
PheGenI	rs113994079
Biobank	rs113994079
1000 genomes	rs113994079
hgdp	rs113994079
ensembl	rs113994079
geneview	rs113994079
scholar	rs113994079
google	rs113994079
pharmgkb	rs113994079
gwascentral	rs113994079
openSNP	rs113994079
23andMe	rs113994079
SNPshot	rs113994079
SNPdbe	rs113994079
MSV3d	rs113994079
GWAS Ctlg	rs113994079

Max Magnitude

0

ClinVar
Risk	rs113994079(C;C)
Alt	rs113994079(C;C)
Reference	Rs113994079(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.183859845T>C
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also