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rs386833790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833790(A;A)
Make rs386833790(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17115518
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833790
ebirs386833790
HLIrs386833790
Exacrs386833790
Varsomers386833790
Maprs386833790
PheGenIrs386833790
hapmaprs386833790
1000 genomesrs386833790
hgdprs386833790
ensemblrs386833790
gopubmedrs386833790
geneviewrs386833790
scholarrs386833790
googlers386833790
pharmgkbrs386833790
gwascentralrs386833790
openSNPrs386833790
23andMers386833790
23andMe allrs386833790
SNP Nexus

SNPshotrs386833790
SNPdbers386833790
MSV3drs386833790
GWAS Ctlgrs386833790
Max Magnitude0
ClinVar
Risk rs386833790(A;A)
Alt rs386833790(A;A)
Reference rs386833790(T;T)
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.17157517A>T
CLNSRC ClinVar
CLNACC RCV000049755.1,


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