rs397514646

Orientation

plus

Stabilized

plus

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

Make rs397514646(C;C)

Make rs397514646(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184140122

Gene

EIF2B5

is a	snp
is	mentioned by
dbSNP	rs397514646
dbSNP (classic)	rs397514646
ClinGen	rs397514646
ebi	rs397514646
HLI	rs397514646
Exac	rs397514646
Gnomad	rs397514646
Varsome	rs397514646
LitVar	rs397514646
Map	rs397514646
PheGenI	rs397514646
Biobank	rs397514646
1000 genomes	rs397514646
hgdp	rs397514646
ensembl	rs397514646
geneview	rs397514646
scholar	rs397514646
google	rs397514646
pharmgkb	rs397514646
gwascentral	rs397514646
openSNP	rs397514646
23andMe	rs397514646
SNPshot	rs397514646
SNPdbe	rs397514646
MSV3d	rs397514646
GWAS Ctlg	rs397514646

Max Magnitude

0

ClinVar
Risk	rs397514646(A;A) rs397514646(C;C) rs397514646(T;T)
Alt	rs397514646(A;A) rs397514646(C;C) rs397514646(T;T)
Reference	Rs397514646(G;G)
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.183857910G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033200.4,