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rs386833776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833776(A;A)
Make rs386833776(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17129120
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833776
ebirs386833776
HLIrs386833776
Exacrs386833776
Varsomers386833776
Maprs386833776
PheGenIrs386833776
hapmaprs386833776
1000 genomesrs386833776
hgdprs386833776
ensemblrs386833776
gopubmedrs386833776
geneviewrs386833776
scholarrs386833776
googlers386833776
pharmgkbrs386833776
gwascentralrs386833776
openSNPrs386833776
23andMers386833776
23andMe allrs386833776
SNP Nexus

SNPshotrs386833776
SNPdbers386833776
MSV3drs386833776
GWAS Ctlgrs386833776
Max Magnitude0
ClinVar
Risk rs386833776(A;A)
Alt rs386833776(A;A)
Reference rs386833776(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.17171119C>T
CLNSRC ClinVar
CLNACC RCV000049741.1,


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