rs113994075

Orientation

plus

Stabilized

plus

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

Make rs113994075(A;G)

Make rs113994075(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184141928

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994075
dbSNP (classic)	rs113994075
ClinGen	rs113994075
ebi	rs113994075
HLI	rs113994075
Exac	rs113994075
Gnomad	rs113994075
Varsome	rs113994075
LitVar	rs113994075
Map	rs113994075
PheGenI	rs113994075
Biobank	rs113994075
1000 genomes	rs113994075
hgdp	rs113994075
ensembl	rs113994075
geneview	rs113994075
scholar	rs113994075
google	rs113994075
pharmgkb	rs113994075
gwascentral	rs113994075
openSNP	rs113994075
23andMe	rs113994075
SNPshot	rs113994075
SNPdbe	rs113994075
MSV3d	rs113994075
GWAS Ctlg	rs113994075

Max Magnitude

0

ClinVar
Risk	rs113994075(G;G)
Alt	rs113994075(G;G)
Reference	Rs113994075(A;A)
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.183859716A>G
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also