Rs104894427

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894427
PheGenIrs104894427
nextbiors104894427
hapmaprs104894427
1000 genomesrs104894427
hgdprs104894427
ensemblrs104894427
gopubmedrs104894427
geneviewrs104894427
scholarrs104894427
googlers104894427
pharmgkbrs104894427
gwascentralrs104894427
openSNPrs104894427
23andMers104894427
23andMe allrs104894427
SNP Nexus

SNPshotrs104894427
SNPdbers104894427
MSV3drs104894427
GeneEIF2B2
Chromosome14
Orientationplus
Position75471553
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894427(C;T)
Make rs104894427(T;T)
OMIM606454
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894427(T;T)
Alt rs104894427(T;T)
Reference rs104894427(C;C)
Significance 5
Disease Ovarioleukodystrophy
ClinVar info
Gene EIF2B2
CLNDBN Ovarioleukodystrophy
Reversed 0
CLNHGVS NC_000014.8:g.75471553C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004586.1


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