Rs104894428

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894428(C;T)
Make rs104894428(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75004815
GeneEIF2B2
is asnp
is mentioned by
dbSNPrs104894428
PheGenIrs104894428
nextbiors104894428
hapmaprs104894428
1000 genomesrs104894428
hgdprs104894428
ensemblrs104894428
gopubmedrs104894428
geneviewrs104894428
scholarrs104894428
googlers104894428
pharmgkbrs104894428
gwascentralrs104894428
openSNPrs104894428
23andMers104894428
23andMe allrs104894428
SNP Nexus

SNPshotrs104894428
SNPdbers104894428
MSV3drs104894428
Max Magnitude0
OMIM606454
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894428(T;T)
Alt rs104894428(T;T)
Reference rs104894428(C;C)
Significance Pathogenic
Disease Ovarioleukodystrophy
Variation info
Gene EIF2B2
CLNDBN Ovarioleukodystrophy
Reversed 0
HGVS NC_000014.8:g.75471518C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004587.1,


[PMID 12707859OA-icon.png] Ovarian failure related to eukaryotic initiation factor 2B mutations.