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rs121918248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 8.8 Methylmalonic aciduria (predicted)
ReferenceGRCh38 38.1/141
Chromosome6
Position49459415
GeneMUT
is asnp
is mentioned by
dbSNPrs121918248
dbSNP (old)rs121918248
ClinGenrs121918248
ebirs121918248
HLIrs121918248
Exacrs121918248
Varsomers121918248
Maprs121918248
PheGenIrs121918248
Biobankrs121918248
1000 genomesrs121918248
hgdprs121918248
ensemblrs121918248
gopubmedrs121918248
geneviewrs121918248
scholarrs121918248
googlers121918248
pharmgkbrs121918248
gwascentralrs121918248
openSNPrs121918248
23andMers121918248
23andMe allrs121918248
SNP Nexus

SNPshotrs121918248
SNPdbers121918248
MSV3drs121918248
GWAS Ctlgrs121918248
Max Magnitude8.8
OMIM609058
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs121918248(T;T)
Alt Rs121918248(T;T)
Reference Rs121918248(C;C)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49427128G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001954.2, RCV000203362.2,