rs397514648

Orientation

plus

Stabilized

plus

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

Make rs397514648(A;A)

Make rs397514648(A;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75003365

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs397514648
dbSNP (classic)	rs397514648
ClinGen	rs397514648
ebi	rs397514648
HLI	rs397514648
Exac	rs397514648
Gnomad	rs397514648
Varsome	rs397514648
LitVar	rs397514648
Map	rs397514648
PheGenI	rs397514648
Biobank	rs397514648
1000 genomes	rs397514648
hgdp	rs397514648
ensembl	rs397514648
geneview	rs397514648
scholar	rs397514648
google	rs397514648
pharmgkb	rs397514648
gwascentral	rs397514648
openSNP	rs397514648
23andMe	rs397514648
SNPshot	rs397514648
SNPdbe	rs397514648
MSV3d	rs397514648
GWAS Ctlg	rs397514648

Max Magnitude

0

ClinVar
Risk	rs397514648(A;A)
Alt	rs397514648(A;A)
Reference	Rs397514648(T;T)
Significance	Pathogenic
Disease	Leukoencephalopathy with vanishing white matter
Variation	info
Gene	EIF2B2
CLNDBN	Leukoencephalopathy with vanishing white matter
Reversed	0
HGVS	NC_000014.8:g.75470068T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033202.3,