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rs386833783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833783(G;G)
Make rs386833783(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17045102
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833783
ebirs386833783
HLIrs386833783
Exacrs386833783
Varsomers386833783
Maprs386833783
PheGenIrs386833783
hapmaprs386833783
1000 genomesrs386833783
hgdprs386833783
ensemblrs386833783
gopubmedrs386833783
geneviewrs386833783
scholarrs386833783
googlers386833783
pharmgkbrs386833783
gwascentralrs386833783
openSNPrs386833783
23andMers386833783
23andMe allrs386833783
SNP Nexus

SNPshotrs386833783
SNPdbers386833783
MSV3drs386833783
GWAS Ctlgrs386833783
Max Magnitude0
ClinVar
Risk rs386833783(G;G)
Alt rs386833783(G;G)
Reference rs386833783(T;T)
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.17087101A>C
CLNSRC ClinVar
CLNACC RCV000049747.1,


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