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rs386833766

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Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833766(A;A)
Make rs386833766(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17105456
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833766
ebirs386833766
HLIrs386833766
Exacrs386833766
Varsomers386833766
Maprs386833766
PheGenIrs386833766
hapmaprs386833766
1000 genomesrs386833766
hgdprs386833766
ensemblrs386833766
gopubmedrs386833766
geneviewrs386833766
scholarrs386833766
googlers386833766
pharmgkbrs386833766
gwascentralrs386833766
openSNPrs386833766
23andMers386833766
23andMe allrs386833766
SNP Nexus

SNPshotrs386833766
SNPdbers386833766
MSV3drs386833766
GWAS Ctlgrs386833766
Max Magnitude0
ClinVar
Risk rs386833766(A;A)
Alt rs386833766(A;A)
Reference rs386833766(G;G)
Significance Probable-Pathogenic
Disease Megaloblastic anemia due to inborn errors of metabolism
Variation info
Gene CUBN
CLNDBN Megaloblastic anemia due to inborn errors of metabolism
Reversed 1
HGVS NC_000010.10:g.17147455C>T
CLNSRC ClinVar
CLNACC RCV000049730.1,


[PMID 15024727] Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.