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rs386833778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833778(C;T)
Make rs386833778(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17068723
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833778
ebirs386833778
HLIrs386833778
Exacrs386833778
Varsomers386833778
Maprs386833778
PheGenIrs386833778
hapmaprs386833778
1000 genomesrs386833778
hgdprs386833778
ensemblrs386833778
gopubmedrs386833778
geneviewrs386833778
scholarrs386833778
googlers386833778
pharmgkbrs386833778
gwascentralrs386833778
openSNPrs386833778
23andMers386833778
23andMe allrs386833778
SNP Nexus

SNPshotrs386833778
SNPdbers386833778
MSV3drs386833778
GWAS Ctlgrs386833778
Max Magnitude0
ClinVar
Risk rs386833778(A,G,T;A,G,T)
Alt rs386833778(A,G,T;A,G,T)
Reference rs386833778(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.17110722G>T
CLNSRC ClinVar
CLNACC RCV000049743.1,


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