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rs386833782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833782(C;G)
Make rs386833782(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17046533
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833782
ebirs386833782
HLIrs386833782
Exacrs386833782
Varsomers386833782
Maprs386833782
PheGenIrs386833782
hapmaprs386833782
1000 genomesrs386833782
hgdprs386833782
ensemblrs386833782
gopubmedrs386833782
geneviewrs386833782
scholarrs386833782
googlers386833782
pharmgkbrs386833782
gwascentralrs386833782
openSNPrs386833782
23andMers386833782
23andMe allrs386833782
SNP Nexus

SNPshotrs386833782
SNPdbers386833782
MSV3drs386833782
GWAS Ctlgrs386833782
Max Magnitude0
ClinVar
Risk rs386833782(G;G)
Alt rs386833782(G;G)
Reference rs386833782(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.17088532G>C
CLNSRC ClinVar
CLNACC RCV000050203.1,


[PMID 10080186] Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 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.


[PMID 22929189OA-icon.png] Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.