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rs386833788

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833788(A;A)
Make rs386833788(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17123643
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833788
ebirs386833788
HLIrs386833788
Exacrs386833788
Varsomers386833788
Maprs386833788
PheGenIrs386833788
hapmaprs386833788
1000 genomesrs386833788
hgdprs386833788
ensemblrs386833788
gopubmedrs386833788
geneviewrs386833788
scholarrs386833788
googlers386833788
pharmgkbrs386833788
gwascentralrs386833788
openSNPrs386833788
23andMers386833788
23andMe allrs386833788
SNP Nexus

SNPshotrs386833788
SNPdbers386833788
MSV3drs386833788
GWAS Ctlgrs386833788
Max Magnitude0
ClinVar
Risk rs386833788(A;A)
Alt rs386833788(A;A)
Reference rs386833788(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.17165642C>T
CLNSRC ClinVar
CLNACC RCV000049753.1,


[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.