rs113994040

Orientation

minus

Stabilized

minus

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

Make rs113994040(C;C)

Make rs113994040(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

27364507

Gene

EIF2B4

is a	snp
is	mentioned by
dbSNP	rs113994040
dbSNP (classic)	rs113994040
ClinGen	rs113994040
ebi	rs113994040
HLI	rs113994040
Exac	rs113994040
Gnomad	rs113994040
Varsome	rs113994040
LitVar	rs113994040
Map	rs113994040
PheGenI	rs113994040
Biobank	rs113994040
1000 genomes	rs113994040
hgdp	rs113994040
ensembl	rs113994040
geneview	rs113994040
scholar	rs113994040
google	rs113994040
pharmgkb	rs113994040
gwascentral	rs113994040
openSNP	rs113994040
23andMe	rs113994040
SNPshot	rs113994040
SNPdbe	rs113994040
MSV3d	rs113994040
GWAS Ctlg	rs113994040

Max Magnitude

0

OMIM	606687
Desc
Variant	0006
Related	also

ClinVar
Risk	rs113994040(C;C)
Alt	rs113994040(C;C)
Reference	Rs113994040(T;T)
Significance	Pathogenic
Disease	Ovarioleukodystrophy
Variation	info
Gene	EIF2B4
CLNDBN	Ovarioleukodystrophy
Reversed	1
HGVS	NC_000002.11:g.27587374A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004338.4,

[PMID 12707859] Ovarian failure related to eukaryotic initiation factor 2B mutations.