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rs111033538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033538(C;T)
Make rs111033538(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position71124445
GeneMCEE
is asnp
is mentioned by
dbSNPrs111033538
ebirs111033538
HLIrs111033538
Exacrs111033538
Varsomers111033538
Maprs111033538
PheGenIrs111033538
hapmaprs111033538
1000 genomesrs111033538
hgdprs111033538
ensemblrs111033538
gopubmedrs111033538
geneviewrs111033538
scholarrs111033538
googlers111033538
pharmgkbrs111033538
gwascentralrs111033538
openSNPrs111033538
23andMers111033538
23andMe allrs111033538
SNP Nexus

SNPshotrs111033538
SNPdbers111033538
MSV3drs111033538
GWAS Ctlgrs111033538
Max Magnitude0
OMIM608419
Desc
Variant0001
Relatedalso
ClinVar
Risk rs111033538(T;T)
Alt rs111033538(T;T)
Reference rs111033538(C;C)
Significance Pathogenic
Disease Methylmalonyl-CoA epimerase deficiency
Variation info
Gene MCEE
CLNDBN Methylmalonyl-CoA epimerase deficiency
Reversed 1
HGVS NC_000002.11:g.71351575G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002434.2,