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

rs386833779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833779(A;A)
Make rs386833779(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position17068123
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833779
ebirs386833779
HLIrs386833779
Exacrs386833779
Varsomers386833779
Maprs386833779
PheGenIrs386833779
hapmaprs386833779
1000 genomesrs386833779
hgdprs386833779
ensemblrs386833779
gopubmedrs386833779
geneviewrs386833779
scholarrs386833779
googlers386833779
pharmgkbrs386833779
gwascentralrs386833779
openSNPrs386833779
23andMers386833779
23andMe allrs386833779
SNP Nexus

SNPshotrs386833779
SNPdbers386833779
MSV3drs386833779
GWAS Ctlgrs386833779
Max Magnitude0
ClinVar
Risk rs386833779(A,T;A,T)
Alt rs386833779(A,T;A,T)
Reference rs386833779(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.17110122G>T
CLNSRC ClinVar
CLNACC RCV000049744.1,


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