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rs121918254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918254(A;A)
Make rs121918254(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position49440295
GeneMUT, TAX1BP1
is asnp
is mentioned by
dbSNPrs121918254
ebirs121918254
HLIrs121918254
Exacrs121918254
Varsomers121918254
Maprs121918254
PheGenIrs121918254
hapmaprs121918254
1000 genomesrs121918254
hgdprs121918254
ensemblrs121918254
gopubmedrs121918254
geneviewrs121918254
scholarrs121918254
googlers121918254
pharmgkbrs121918254
gwascentralrs121918254
openSNPrs121918254
23andMers121918254
23andMe allrs121918254
SNP Nexus

SNPshotrs121918254
SNPdbers121918254
MSV3drs121918254
GWAS Ctlgrs121918254
Max Magnitude0
OMIM609058
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918254(A;A)
Alt rs121918254(A;A)
Reference rs121918254(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.49408008C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001961.3, RCV000203390.1,