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rs386833767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833767(C;G)
Make rs386833767(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17103219
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833767
ebirs386833767
HLIrs386833767
Exacrs386833767
Varsomers386833767
Maprs386833767
PheGenIrs386833767
hapmaprs386833767
1000 genomesrs386833767
hgdprs386833767
ensemblrs386833767
gopubmedrs386833767
geneviewrs386833767
scholarrs386833767
googlers386833767
pharmgkbrs386833767
gwascentralrs386833767
openSNPrs386833767
23andMers386833767
23andMe allrs386833767
SNP Nexus

SNPshotrs386833767
SNPdbers386833767
MSV3drs386833767
GWAS Ctlgrs386833767
Max Magnitude0
ClinVar
Risk rs386833767(G;G)
Alt rs386833767(G;G)
Reference rs386833767(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.17145218G>C
CLNSRC ClinVar
CLNACC RCV000049731.1,


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