Rs113994014

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Orientationplus
is asnp
is mentioned by
dbSNPrs113994014
PheGenIrs113994014
nextbiors113994014
hapmaprs113994014
1000 genomesrs113994014
hgdprs113994014
ensemblrs113994014
gopubmedrs113994014
geneviewrs113994014
scholarrs113994014
googlers113994014
pharmgkbrs113994014
gwascentralrs113994014
openSNPrs113994014
23andMers113994014
23andMe allrs113994014
SNP Nexus

SNPshotrs113994014
SNPdbers113994014
MSV3drs113994014
GeneEIF2B2
Chromosome14
Orientationplus
Position75005875
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(ATGGCT;ATGGCT) 0 common in clinvar
Make rs113994014(ATGGCT;TG)
Make rs113994014(TG;TG)
OMIM606454
Desc
Variant0005
Relatedalso
ClinVar
Risk rs113994014(TG;TG)
Alt rs113994014(TG;TG)
Reference rs113994014(ATGGCT;ATGGCT)
Significance 5
Disease Ovarioleukodystrophy
ClinVar info
Gene EIF2B2
CLNDBN Ovarioleukodystrophy
Reversed 0
CLNHGVS NC_000014.8:g.75472578_75472583delATGGCTinsTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004588.1


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

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