rs113994051

Orientation

plus

Stabilized

plus

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

Make rs113994051(C;T)

Make rs113994051(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184137705

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994051
dbSNP (classic)	rs113994051
ClinGen	rs113994051
ebi	rs113994051
HLI	rs113994051
Exac	rs113994051
Gnomad	rs113994051
Varsome	rs113994051
LitVar	rs113994051
Map	rs113994051
PheGenI	rs113994051
Biobank	rs113994051
1000 genomes	rs113994051
hgdp	rs113994051
ensembl	rs113994051
geneview	rs113994051
scholar	rs113994051
google	rs113994051
pharmgkb	rs113994051
gwascentral	rs113994051
openSNP	rs113994051
23andMe	rs113994051
SNPshot	rs113994051
SNPdbe	rs113994051
MSV3d	rs113994051
GWAS Ctlg	rs113994051

Max Magnitude

0

ClinVar
Risk	rs113994051(T;T)
Alt	rs113994051(T;T)
Reference	Rs113994051(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.183855493C>T
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also