rs113994080

Orientation

plus

Stabilized

plus

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

Make rs113994080(C;T)

Make rs113994080(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184142274

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994080
dbSNP (classic)	rs113994080
ClinGen	rs113994080
ebi	rs113994080
HLI	rs113994080
Exac	rs113994080
Gnomad	rs113994080
Varsome	rs113994080
LitVar	rs113994080
Map	rs113994080
PheGenI	rs113994080
Biobank	rs113994080
1000 genomes	rs113994080
hgdp	rs113994080
ensembl	rs113994080
geneview	rs113994080
scholar	rs113994080
google	rs113994080
pharmgkb	rs113994080
gwascentral	rs113994080
openSNP	rs113994080
23andMe	rs113994080
SNPshot	rs113994080
SNPdbe	rs113994080
MSV3d	rs113994080
GWAS Ctlg	rs113994080

Max Magnitude

0

ClinVar
Risk	rs113994080(T;T)
Alt	rs113994080(T;T)
Reference	Rs113994080(C;C)
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.183860062C>T
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also