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rs121918251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918251(A;A)
Make rs121918251(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position49459189
GeneMUT
is asnp
is mentioned by
dbSNPrs121918251
ebirs121918251
HLIrs121918251
Exacrs121918251
Varsomers121918251
Maprs121918251
PheGenIrs121918251
hapmaprs121918251
1000 genomesrs121918251
hgdprs121918251
ensemblrs121918251
gopubmedrs121918251
geneviewrs121918251
scholarrs121918251
googlers121918251
pharmgkbrs121918251
gwascentralrs121918251
openSNPrs121918251
23andMers121918251
23andMe allrs121918251
SNP Nexus

SNPshotrs121918251
SNPdbers121918251
MSV3drs121918251
GWAS Ctlgrs121918251
GMAF0.0004591
Max Magnitude0
OMIM609058
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918251(A;A)
Alt rs121918251(A;A)
Reference rs121918251(G;G)
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.49426902C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001957.2, RCV000175568.1,