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rs386833777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs386833777(-;-)
Make rs386833777(-;GA)
ReferenceGRCh38 38.1/141
Chromosome10
Position17071436
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833777
ebirs386833777
HLIrs386833777
Exacrs386833777
Varsomers386833777
Maprs386833777
PheGenIrs386833777
hapmaprs386833777
1000 genomesrs386833777
hgdprs386833777
ensemblrs386833777
gopubmedrs386833777
geneviewrs386833777
scholarrs386833777
googlers386833777
pharmgkbrs386833777
gwascentralrs386833777
openSNPrs386833777
23andMers386833777
23andMe allrs386833777
SNP Nexus

SNPshotrs386833777
SNPdbers386833777
MSV3drs386833777
GWAS Ctlgrs386833777
Max Magnitude0
ClinVar
Risk rs386833777(;)
Alt rs386833777(;)
Reference rs386833777(GA;GA)
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.17113435_17113436delTC
CLNSRC ClinVar
CLNACC RCV000049742.1,


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