rs113994044

Orientation

plus

Stabilized

plus

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

Make rs113994044(C;C)

Make rs113994044(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184136619

Gene	EIF2B5, LOC105374249

is a	snp
is	mentioned by
dbSNP	rs113994044
dbSNP (classic)	rs113994044
ClinGen	rs113994044
ebi	rs113994044
HLI	rs113994044
Exac	rs113994044
Gnomad	rs113994044
Varsome	rs113994044
LitVar	rs113994044
Map	rs113994044
PheGenI	rs113994044
Biobank	rs113994044
1000 genomes	rs113994044
hgdp	rs113994044
ensembl	rs113994044
geneview	rs113994044
scholar	rs113994044
google	rs113994044
pharmgkb	rs113994044
gwascentral	rs113994044
openSNP	rs113994044
23andMe	rs113994044
SNPshot	rs113994044
SNPdbe	rs113994044
MSV3d	rs113994044
GWAS Ctlg	rs113994044

Max Magnitude

0

ClinVar
Risk	rs113994044(C;C)
Alt	rs113994044(C;C)
Reference	Rs113994044(T;T)
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.183854407T>C
CLNSRC
CLNACC

OMIM	603896
Desc
Variant
Related	also