rs113994014

Orientation

plus

Stabilized

plus

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

Make rs113994014(ATGGCT;TG)

Make rs113994014(TG;TG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75005875

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs113994014
dbSNP (classic)	rs113994014
ClinGen	rs113994014
ebi	rs113994014
HLI	rs113994014
Exac	rs113994014
Gnomad	rs113994014
Varsome	rs113994014
LitVar	rs113994014
Map	rs113994014
PheGenI	rs113994014
Biobank	rs113994014
1000 genomes	rs113994014
hgdp	rs113994014
ensembl	rs113994014
geneview	rs113994014
scholar	rs113994014
google	rs113994014
pharmgkb	rs113994014
gwascentral	rs113994014
openSNP	rs113994014
23andMe	rs113994014
SNPshot	rs113994014
SNPdbe	rs113994014
MSV3d	rs113994014
GWAS Ctlg	rs113994014

Max Magnitude

0

OMIM	606454
Desc
Variant	0005
Related	also

ClinVar
Risk	rs113994014(TG;TG)
Alt	rs113994014(TG;TG)
Reference	Rs113994014(ATGGCT;ATGGCT)
Significance	Pathogenic
Disease	Ovarioleukodystrophy
Variation	info
Gene	EIF2B2
CLNDBN	Ovarioleukodystrophy
Reversed	0
HGVS	NC_000014.8:g.75472578_75472583delATGGCTinsTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004588.3,

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

[PMID 14572143] Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.