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rs386833791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833791(C;T)
Make rs386833791(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17111045
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833791
ebirs386833791
HLIrs386833791
Exacrs386833791
Varsomers386833791
Maprs386833791
PheGenIrs386833791
hapmaprs386833791
1000 genomesrs386833791
hgdprs386833791
ensemblrs386833791
gopubmedrs386833791
geneviewrs386833791
scholarrs386833791
googlers386833791
pharmgkbrs386833791
gwascentralrs386833791
openSNPrs386833791
23andMers386833791
23andMe allrs386833791
SNP Nexus

SNPshotrs386833791
SNPdbers386833791
MSV3drs386833791
GWAS Ctlgrs386833791
Max Magnitude0
ClinVar
Risk rs386833791(T;T)
Alt rs386833791(T;T)
Reference rs386833791(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.17153044G>A
CLNSRC ClinVar
CLNACC RCV000049756.1,


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