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rs182512508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs182512508(C;C)
Make rs182512508(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17085756
GeneCUBN
is asnp
is mentioned by
dbSNPrs182512508
ebirs182512508
HLIrs182512508
Exacrs182512508
Varsomers182512508
Maprs182512508
PheGenIrs182512508
hapmaprs182512508
1000 genomesrs182512508
hgdprs182512508
ensemblrs182512508
gopubmedrs182512508
geneviewrs182512508
scholarrs182512508
googlers182512508
pharmgkbrs182512508
gwascentralrs182512508
openSNPrs182512508
23andMers182512508
23andMe allrs182512508
SNP Nexus

SNPshotrs182512508
SNPdbers182512508
MSV3drs182512508
GWAS Ctlgrs182512508
GMAF0.002755
Max Magnitude0
ClinVar
Risk rs182512508(A,C;A,C)
Alt rs182512508(A,C;A,C)
Reference rs182512508(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 0
HGVS NC_000010.10:g.17127755G>A
CLNSRC ClinVar
CLNACC RCV000049736.1,


[PMID 15024727] Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.