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rs386833784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833784(C;T)
Make rs386833784(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17043907
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833784
ebirs386833784
HLIrs386833784
Exacrs386833784
Varsomers386833784
Maprs386833784
PheGenIrs386833784
hapmaprs386833784
1000 genomesrs386833784
hgdprs386833784
ensemblrs386833784
gopubmedrs386833784
geneviewrs386833784
scholarrs386833784
googlers386833784
pharmgkbrs386833784
gwascentralrs386833784
openSNPrs386833784
23andMers386833784
23andMe allrs386833784
SNP Nexus

SNPshotrs386833784
SNPdbers386833784
MSV3drs386833784
GWAS Ctlgrs386833784
Max Magnitude0
ClinVar
Risk rs386833784(T;T)
Alt rs386833784(T;T)
Reference rs386833784(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.17085906G>A
CLNSRC ClinVar
CLNACC RCV000049748.1,


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