Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568307275
rs1568307275
MAN2B1
TAA 0.700 CausalMutation CLINVAR

dbSNP: rs121918241
rs121918241
MMACHC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918243
rs121918243
MMACHC
A 0.700 CausalMutation CLINVAR

dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 17957493

2008
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. 7912889

1994
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. 15643616

2005
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. 11350191

2001
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. 1670635

1991
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. 9285782

1997
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. 17113806

2007
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 25125334

2014
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597

2016
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. 19588269

2009
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 16281286

2006
dbSNP: rs12175488
rs12175488
MMUT
G 0.800 CausalMutation CLINVAR Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 27167370

2016
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. 1351030

1992
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. 22727635

2012
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. 15781192

2005
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. 1977311

1990
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. 10923046

2000
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778

2017
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT A common mutation among blacks with mut- methylmalonic aciduria. 9452100

1998
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Seven novel mutations in mut methylmalonic aciduria. 9554742

1998
dbSNP: rs12175488
rs12175488
MMUT
0.800 GeneticVariation UNIPROT Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 27167370

2016
dbSNP: rs121918249
rs121918249
MMUT
0.800 GeneticVariation UNIPROT Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 27167370

2016