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

rs386833781

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833781(-;-)
Make rs386833781(-;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position17065551
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833781
ebirs386833781
HLIrs386833781
Exacrs386833781
Varsomers386833781
Maprs386833781
PheGenIrs386833781
hapmaprs386833781
1000 genomesrs386833781
hgdprs386833781
ensemblrs386833781
gopubmedrs386833781
geneviewrs386833781
scholarrs386833781
googlers386833781
pharmgkbrs386833781
gwascentralrs386833781
openSNPrs386833781
23andMers386833781
23andMe allrs386833781
SNP Nexus

SNPshotrs386833781
SNPdbers386833781
MSV3drs386833781
GWAS Ctlgrs386833781
Max Magnitude0
ClinVar
Risk rs386833781(;)
Alt rs386833781(;)
Reference rs386833781(T;T)
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.17107550delA
CLNSRC ClinVar
CLNACC RCV000049746.1,


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