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rs386833768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833768(-;-)
Make rs386833768(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17103129
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833768
ebirs386833768
HLIrs386833768
Exacrs386833768
Varsomers386833768
Maprs386833768
PheGenIrs386833768
hapmaprs386833768
1000 genomesrs386833768
hgdprs386833768
ensemblrs386833768
gopubmedrs386833768
geneviewrs386833768
scholarrs386833768
googlers386833768
pharmgkbrs386833768
gwascentralrs386833768
openSNPrs386833768
23andMers386833768
23andMe allrs386833768
SNP Nexus

SNPshotrs386833768
SNPdbers386833768
MSV3drs386833768
GWAS Ctlgrs386833768
Max Magnitude0
ClinVar
Risk rs386833768(;)
Alt rs386833768(;)
Reference rs386833768(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.17145128delC
CLNSRC ClinVar
CLNACC RCV000049732.1,


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