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rs386833775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAAAGAACCTGTAGGTGGA;GAAAGAACCTGTAGGTGGA) 0 common in clinvar
Make rs386833775(-;-)
Make rs386833775(-;GAAAGAACCTGTAGGTGGA)
ReferenceGRCh38 38.1/141
Chromosome10
Position17071518
GeneCUBN
is asnp
is mentioned by
dbSNPrs386833775
dbSNP (old)rs386833775
ClinGenrs386833775
ebirs386833775
HLIrs386833775
Exacrs386833775
Gnomadrs386833775
Varsomers386833775
Maprs386833775
PheGenIrs386833775
Biobankrs386833775
1000 genomesrs386833775
hgdprs386833775
ensemblrs386833775
gopubmedrs386833775
geneviewrs386833775
scholarrs386833775
googlers386833775
pharmgkbrs386833775
gwascentralrs386833775
openSNPrs386833775
23andMers386833775
23andMe allrs386833775
SNP Nexus

SNPshotrs386833775
SNPdbers386833775
MSV3drs386833775
GWAS Ctlgrs386833775
Max Magnitude0
ClinVar
Risk rs386833775(-;-)
Alt rs386833775(-;-)
Reference Rs386833775(GAAAGAACCTGTAGGTGGA;GAAAGAACCTGTAGGTGGA)
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.17113517_17113535del19
CLNSRC ClinVar
CLNACC RCV000049740.1,


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