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rs386833785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833785(A;A)
Make rs386833785(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position17041051
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833785
ebirs386833785
HLIrs386833785
Exacrs386833785
Varsomers386833785
Maprs386833785
PheGenIrs386833785
hapmaprs386833785
1000 genomesrs386833785
hgdprs386833785
ensemblrs386833785
gopubmedrs386833785
geneviewrs386833785
scholarrs386833785
googlers386833785
pharmgkbrs386833785
gwascentralrs386833785
openSNPrs386833785
23andMers386833785
23andMe allrs386833785
SNP Nexus

SNPshotrs386833785
SNPdbers386833785
MSV3drs386833785
GWAS Ctlgrs386833785
Max Magnitude0
ClinVar
Risk rs386833785(A;A)
Alt rs386833785(A;A)
Reference rs386833785(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.17083050G>T
CLNSRC ClinVar
CLNACC RCV000049750.1,


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