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rs386833774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833774(C;T)
Make rs386833774(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17129123
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833774
ebirs386833774
HLIrs386833774
Exacrs386833774
Varsomers386833774
Maprs386833774
PheGenIrs386833774
hapmaprs386833774
1000 genomesrs386833774
hgdprs386833774
ensemblrs386833774
gopubmedrs386833774
geneviewrs386833774
scholarrs386833774
googlers386833774
pharmgkbrs386833774
gwascentralrs386833774
openSNPrs386833774
23andMers386833774
23andMe allrs386833774
SNP Nexus

SNPshotrs386833774
SNPdbers386833774
MSV3drs386833774
GWAS Ctlgrs386833774
Max Magnitude0
ClinVar
Risk rs386833774(T;T)
Alt rs386833774(T;T)
Reference rs386833774(C;C)
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.17171122G>A
CLNSRC ClinVar
CLNACC RCV000049739.1,


[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.