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

rs386833771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833771(-;-)
Make rs386833771(-;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position17088246
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833771
ebirs386833771
HLIrs386833771
Exacrs386833771
Varsomers386833771
Maprs386833771
PheGenIrs386833771
hapmaprs386833771
1000 genomesrs386833771
hgdprs386833771
ensemblrs386833771
gopubmedrs386833771
geneviewrs386833771
scholarrs386833771
googlers386833771
pharmgkbrs386833771
gwascentralrs386833771
openSNPrs386833771
23andMers386833771
23andMe allrs386833771
SNP Nexus

SNPshotrs386833771
SNPdbers386833771
MSV3drs386833771
GWAS Ctlgrs386833771
Max Magnitude0
ClinVar
Risk rs386833771(;)
Alt rs386833771(;)
Reference rs386833771(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.17130245delG
CLNSRC ClinVar
CLNACC RCV000049735.1,


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