rs104894427

Orientation

plus

Stabilized

plus

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

Make rs104894427(C;T)

Make rs104894427(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75004850

Gene

EIF2B2

is a	snp
is	mentioned by
dbSNP	rs104894427
dbSNP (classic)	rs104894427
ClinGen	rs104894427
ebi	rs104894427
HLI	rs104894427
Exac	rs104894427
Gnomad	rs104894427
Varsome	rs104894427
LitVar	rs104894427
Map	rs104894427
PheGenI	rs104894427
Biobank	rs104894427
1000 genomes	rs104894427
hgdp	rs104894427
ensembl	rs104894427
geneview	rs104894427
scholar	rs104894427
google	rs104894427
pharmgkb	rs104894427
gwascentral	rs104894427
openSNP	rs104894427
23andMe	rs104894427
SNPshot	rs104894427
SNPdbe	rs104894427
MSV3d	rs104894427
GWAS Ctlg	rs104894427

Max Magnitude

0

OMIM	606454
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894427(T;T)
Alt	rs104894427(T;T)
Reference	Rs104894427(C;C)
Significance	Pathogenic
Disease	Ovarioleukodystrophy
Variation	info
Gene	EIF2B2
CLNDBN	Ovarioleukodystrophy
Reversed	0
HGVS	NC_000014.8:g.75471553C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004586.3,

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