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rs398123278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123278(C;T)
Make rs398123278(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position49459376
GeneMUT
is asnp
is mentioned by
dbSNPrs398123278
ebirs398123278
HLIrs398123278
Exacrs398123278
Varsomers398123278
Maprs398123278
PheGenIrs398123278
hapmaprs398123278
1000 genomesrs398123278
hgdprs398123278
ensemblrs398123278
gopubmedrs398123278
geneviewrs398123278
scholarrs398123278
googlers398123278
pharmgkbrs398123278
gwascentralrs398123278
openSNPrs398123278
23andMers398123278
23andMe allrs398123278
SNP Nexus

SNPshotrs398123278
SNPdbers398123278
MSV3drs398123278
GWAS Ctlgrs398123278
Max Magnitude0
ClinVar
Risk rs398123278(T;T)
Alt rs398123278(T;T)
Reference rs398123278(C;C)
Significance Pathogenic
Disease not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49427089G>A
CLNSRC HGMD
CLNACC RCV000078448.3, RCV000175566.1,