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rs386833786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833786(C;G)
Make rs386833786(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17019886
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833786
ebirs386833786
HLIrs386833786
Exacrs386833786
Varsomers386833786
Maprs386833786
PheGenIrs386833786
hapmaprs386833786
1000 genomesrs386833786
hgdprs386833786
ensemblrs386833786
gopubmedrs386833786
geneviewrs386833786
scholarrs386833786
googlers386833786
pharmgkbrs386833786
gwascentralrs386833786
openSNPrs386833786
23andMers386833786
23andMe allrs386833786
SNP Nexus

SNPshotrs386833786
SNPdbers386833786
MSV3drs386833786
GWAS Ctlgrs386833786
Max Magnitude0
ClinVar
Risk rs386833786(G;G)
Alt rs386833786(G;G)
Reference rs386833786(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.17061885G>C
CLNSRC ClinVar
CLNACC RCV000049751.1,


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