Gene: MCCC2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103226
rs119103226
MCCC2
0.800 GeneticVariation UNIPROT Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 11406611

2001
dbSNP: rs119103226
rs119103226
MCCC2
0.800 GeneticVariation UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs148773718
rs148773718
MCCC2
0.800 GeneticVariation UNIPROT The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001
dbSNP: rs148773718
rs148773718
MCCC2
0.800 GeneticVariation UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs148773718
rs148773718
MCCC2
0.800 GeneticVariation UNIPROT Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 11406611

2001
dbSNP: rs150591260
rs150591260
MCCC2
0.800 GeneticVariation UNIPROT Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 11406611

2001
dbSNP: rs150591260
rs150591260
MCCC2
0.800 GeneticVariation UNIPROT The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001
dbSNP: rs150591260
rs150591260
MCCC2
0.800 GeneticVariation UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001
dbSNP: rs119103219
rs119103219
MCCC2
0.800 GeneticVariation UNIPROT

dbSNP: rs141030969
rs141030969
MCCC2
0.800 GeneticVariation UNIPROT

dbSNP: rs757052602
rs757052602
MCCC2
0.800 GeneticVariation UNIPROT

dbSNP: rs766753795
rs766753795
MCCC2
0.800 GeneticVariation UNIPROT

dbSNP: rs773774134
rs773774134
MCCC2
0.800 GeneticVariation UNIPROT

dbSNP: rs119103220
rs119103220
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs119103221
rs119103221
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs119103222
rs119103222
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs119103223
rs119103223
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs119103224
rs119103224
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs119103225
rs119103225
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs1257849672
rs1257849672
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs139852818
rs139852818
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs140806722
rs140806722
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs142887940
rs142887940
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs1443551700
rs1443551700
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016
dbSNP: rs1450515408
rs1450515408
MCCC2
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016