rs113994073

Orientation

plus

Stabilized

plus

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

Make rs113994073(A;G)

Make rs113994073(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184140727

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs113994073
dbSNP (classic)	rs113994073
ClinGen	rs113994073
ebi	rs113994073
HLI	rs113994073
Exac	rs113994073
Gnomad	rs113994073
Varsome	rs113994073
LitVar	rs113994073
Map	rs113994073
PheGenI	rs113994073
Biobank	rs113994073
1000 genomes	rs113994073
hgdp	rs113994073
ensembl	rs113994073
geneview	rs113994073
scholar	rs113994073
google	rs113994073
pharmgkb	rs113994073
gwascentral	rs113994073
openSNP	rs113994073
23andMe	rs113994073
SNPshot	rs113994073
SNPdbe	rs113994073
MSV3d	rs113994073
GWAS Ctlg	rs113994073

Max Magnitude

0

ClinVar
Risk	rs113994073(G;G)
Alt	rs113994073(G;G)
Reference	Rs113994073(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.183858515A>G
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also