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rs386833770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833770(-;-)
Make rs386833770(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position17088273
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833770
ebirs386833770
HLIrs386833770
Exacrs386833770
Varsomers386833770
Maprs386833770
PheGenIrs386833770
hapmaprs386833770
1000 genomesrs386833770
hgdprs386833770
ensemblrs386833770
gopubmedrs386833770
geneviewrs386833770
scholarrs386833770
googlers386833770
pharmgkbrs386833770
gwascentralrs386833770
openSNPrs386833770
23andMers386833770
23andMe allrs386833770
SNP Nexus

SNPshotrs386833770
SNPdbers386833770
MSV3drs386833770
GWAS Ctlgrs386833770
Max Magnitude0
ClinVar
Risk rs386833770(;)
Alt rs386833770(;)
Reference rs386833770(G;G)
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.17130272delC
CLNSRC ClinVar
CLNACC RCV000049734.1,


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