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rs386833769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833769(A;A)
Make rs386833769(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17103125
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833769
dbSNP (old)rs386833769
ClinGenrs386833769
ebirs386833769
HLIrs386833769
Exacrs386833769
Gnomadrs386833769
Varsomers386833769
Maprs386833769
PheGenIrs386833769
Biobankrs386833769
1000 genomesrs386833769
hgdprs386833769
ensemblrs386833769
gopubmedrs386833769
geneviewrs386833769
scholarrs386833769
googlers386833769
pharmgkbrs386833769
gwascentralrs386833769
openSNPrs386833769
23andMers386833769
23andMe allrs386833769
SNP Nexus

SNPshotrs386833769
SNPdbers386833769
MSV3drs386833769
GWAS Ctlgrs386833769
Max Magnitude0
ClinVar
Risk rs386833769(A;A)
Alt rs386833769(A;A)
Reference Rs386833769(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.17145124C>T
CLNSRC ClinVar
CLNACC RCV000049733.1,


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