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rs386833772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833772(A;G)
Make rs386833772(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17085639
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833772
ebirs386833772
HLIrs386833772
Exacrs386833772
Varsomers386833772
Maprs386833772
PheGenIrs386833772
hapmaprs386833772
1000 genomesrs386833772
hgdprs386833772
ensemblrs386833772
gopubmedrs386833772
geneviewrs386833772
scholarrs386833772
googlers386833772
pharmgkbrs386833772
gwascentralrs386833772
openSNPrs386833772
23andMers386833772
23andMe allrs386833772
SNP Nexus

SNPshotrs386833772
SNPdbers386833772
MSV3drs386833772
GWAS Ctlgrs386833772
Max Magnitude0
ClinVar
Risk rs386833772(G;G)
Alt rs386833772(G;G)
Reference rs386833772(A;A)
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.17127638T>C
CLNSRC ClinVar
CLNACC RCV000049737.1,


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