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rs386833780

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833780(C;G)
Make rs386833780(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17065591
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833780
ebirs386833780
HLIrs386833780
Exacrs386833780
Varsomers386833780
Maprs386833780
PheGenIrs386833780
hapmaprs386833780
1000 genomesrs386833780
hgdprs386833780
ensemblrs386833780
gopubmedrs386833780
geneviewrs386833780
scholarrs386833780
googlers386833780
pharmgkbrs386833780
gwascentralrs386833780
openSNPrs386833780
23andMers386833780
23andMe allrs386833780
SNP Nexus

SNPshotrs386833780
SNPdbers386833780
MSV3drs386833780
GWAS Ctlgrs386833780
Max Magnitude0
ClinVar
Risk rs386833780(G;G)
Alt rs386833780(G;G)
Reference rs386833780(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.17107590G>C
CLNSRC ClinVar
CLNACC RCV000049745.1,


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