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rs386833787

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833787(A;A)
Make rs386833787(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17019833
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833787
ebirs386833787
HLIrs386833787
Exacrs386833787
Varsomers386833787
Maprs386833787
PheGenIrs386833787
hapmaprs386833787
1000 genomesrs386833787
hgdprs386833787
ensemblrs386833787
gopubmedrs386833787
geneviewrs386833787
scholarrs386833787
googlers386833787
pharmgkbrs386833787
gwascentralrs386833787
openSNPrs386833787
23andMers386833787
23andMe allrs386833787
SNP Nexus

SNPshotrs386833787
SNPdbers386833787
MSV3drs386833787
GWAS Ctlgrs386833787
Max Magnitude0
ClinVar
Risk rs386833787(A;A)
Alt rs386833787(A;A)
Reference rs386833787(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.17061832C>T
CLNSRC ClinVar
CLNACC RCV000049752.1,


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