rs113994041

Orientation

plus

Stabilized

plus

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

Make rs113994041(A;A)

Make rs113994041(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184135432

Gene	EIF2B5, LOC105374249

is a	snp
is	mentioned by
dbSNP	rs113994041
dbSNP (classic)	rs113994041
ClinGen	rs113994041
ebi	rs113994041
HLI	rs113994041
Exac	rs113994041
Gnomad	rs113994041
Varsome	rs113994041
LitVar	rs113994041
Map	rs113994041
PheGenI	rs113994041
Biobank	rs113994041
1000 genomes	rs113994041
hgdp	rs113994041
ensembl	rs113994041
geneview	rs113994041
scholar	rs113994041
google	rs113994041
pharmgkb	rs113994041
gwascentral	rs113994041
openSNP	rs113994041
23andMe	rs113994041
SNPshot	rs113994041
SNPdbe	rs113994041
MSV3d	rs113994041
GWAS Ctlg	rs113994041

Max Magnitude

0

ClinVar
Risk	rs113994041(A;A)
Alt	rs113994041(A;A)
Reference	Rs113994041(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.183853220C>A
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also