rs113994017

Orientation

plus

Stabilized

plus

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

Make rs113994017(C;T)

Make rs113994017(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75007761

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs113994017
dbSNP (classic)	rs113994017
ClinGen	rs113994017
ebi	rs113994017
HLI	rs113994017
Exac	rs113994017
Gnomad	rs113994017
Varsome	rs113994017
LitVar	rs113994017
Map	rs113994017
PheGenI	rs113994017
Biobank	rs113994017
1000 genomes	rs113994017
hgdp	rs113994017
ensembl	rs113994017
geneview	rs113994017
scholar	rs113994017
google	rs113994017
pharmgkb	rs113994017
gwascentral	rs113994017
openSNP	rs113994017
23andMe	rs113994017
SNPshot	rs113994017
SNPdbe	rs113994017
MSV3d	rs113994017
GWAS Ctlg	rs113994017

Max Magnitude

0

ClinVar
Risk	rs113994017(T;T)
Alt	rs113994017(T;T)
Reference	Rs113994017(C;C)
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.75474464C>T
CLNSRC
CLNACC