rs121908541

Orientation

plus

Stabilized

plus

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

Make rs121908541(G;G)

Make rs121908541(G;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184135552

Gene	EIF2B5, LOC105374249

is a	snp
is	mentioned by
dbSNP	rs121908541
dbSNP (classic)	rs121908541
ClinGen	rs121908541
ebi	rs121908541
HLI	rs121908541
Exac	rs121908541
Gnomad	rs121908541
Varsome	rs121908541
LitVar	rs121908541
Map	rs121908541
PheGenI	rs121908541
Biobank	rs121908541
1000 genomes	rs121908541
hgdp	rs121908541
ensembl	rs121908541
geneview	rs121908541
scholar	rs121908541
google	rs121908541
pharmgkb	rs121908541
gwascentral	rs121908541
openSNP	rs121908541
23andMe	rs121908541
SNPshot	rs121908541
SNPdbe	rs121908541
MSV3d	rs121908541
GWAS Ctlg	rs121908541

Max Magnitude

0

OMIM	603945
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908541(G;G)
Alt	rs121908541(G;G)
Reference	Rs121908541(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.183853340T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006316.5,