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rs386833773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833773(C;T)
Make rs386833773(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17071565
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833773
ebirs386833773
HLIrs386833773
Exacrs386833773
Varsomers386833773
Maprs386833773
PheGenIrs386833773
hapmaprs386833773
1000 genomesrs386833773
hgdprs386833773
ensemblrs386833773
gopubmedrs386833773
geneviewrs386833773
scholarrs386833773
googlers386833773
pharmgkbrs386833773
gwascentralrs386833773
openSNPrs386833773
23andMers386833773
23andMe allrs386833773
SNP Nexus

SNPshotrs386833773
SNPdbers386833773
MSV3drs386833773
GWAS Ctlgrs386833773
Max Magnitude0
ClinVar
Risk rs386833773(T;T)
Alt rs386833773(T;T)
Reference rs386833773(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.17113564G>A
CLNSRC ClinVar
CLNACC RCV000049738.1,


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