Gene: HMGCS2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852636
rs137852636
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. 12647205

2003
dbSNP: rs137852638
rs137852638
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. 12647205

2003
dbSNP: rs137852639
rs137852639
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. 12647205

2003
dbSNP: rs137852640
rs137852640
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. 12647205

2003
dbSNP: rs28937320
rs28937320
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. 12647205

2003
dbSNP: rs137852636
rs137852636
HMGCS2
0.800 GeneticVariation UNIPROT Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731

2001
dbSNP: rs137852636
rs137852636
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. 11228257

2001
dbSNP: rs137852638
rs137852638
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. 11228257

2001
dbSNP: rs137852638
rs137852638
HMGCS2
0.800 GeneticVariation UNIPROT Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731

2001
dbSNP: rs137852639
rs137852639
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. 11228257

2001
dbSNP: rs137852639
rs137852639
HMGCS2
0.800 GeneticVariation UNIPROT Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731

2001
dbSNP: rs137852640
rs137852640
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. 11228257

2001
dbSNP: rs137852640
rs137852640
HMGCS2
0.800 GeneticVariation UNIPROT Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731

2001
dbSNP: rs28937320
rs28937320
HMGCS2
0.800 GeneticVariation UNIPROT Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. 11228257

2001
dbSNP: rs28937320
rs28937320
HMGCS2
0.800 GeneticVariation UNIPROT Genetic basis of mitochondrial HMG-CoA synthase deficiency. 11479731

2001