Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434430(C;T)
Make rs121434430(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17041160
GeneCUBN
is asnp
is mentioned by
dbSNPrs121434430
ebirs121434430
HLIrs121434430
Exacrs121434430
Varsomers121434430
Maprs121434430
PheGenIrs121434430
hapmaprs121434430
1000 genomesrs121434430
hgdprs121434430
ensemblrs121434430
gopubmedrs121434430
geneviewrs121434430
scholarrs121434430
googlers121434430
pharmgkbrs121434430
gwascentralrs121434430
openSNPrs121434430
23andMers121434430
23andMe allrs121434430
SNP Nexus

SNPshotrs121434430
SNPdbers121434430
MSV3drs121434430
GWAS Ctlgrs121434430
Merged fromRs28939699
Max Magnitude0
OMIM602997
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434430(T;T)
Alt rs121434430(T;T)
Reference rs121434430(C;C)
Significance Pathogenic
Disease Megaloblastic anemia 1 Megaloblastic anemia due to inborn errors of metabolism
Variation info
Gene CUBN
CLNDBN Megaloblastic anemia 1, Finnish type Megaloblastic anemia due to inborn errors of metabolism
Reversed 1
HGVS NC_000010.10:g.17083159G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007077.2, RCV000049749.1,


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