Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833789(A;A)
Make rs386833789(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17123588
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833789
ebirs386833789
HLIrs386833789
Exacrs386833789
Varsomers386833789
Maprs386833789
PheGenIrs386833789
hapmaprs386833789
1000 genomesrs386833789
hgdprs386833789
ensemblrs386833789
gopubmedrs386833789
geneviewrs386833789
scholarrs386833789
googlers386833789
pharmgkbrs386833789
gwascentralrs386833789
openSNPrs386833789
23andMers386833789
23andMe allrs386833789
SNP Nexus

SNPshotrs386833789
SNPdbers386833789
MSV3drs386833789
GWAS Ctlgrs386833789
Max Magnitude0
ClinVar
Risk rs386833789(A;A)
Alt rs386833789(A;A)
Reference rs386833789(G;G)
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.17165587C>T
CLNSRC ClinVar
CLNACC RCV000049754.1,


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