Gene: CLPB ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150857620
rs150857620
CLPB
0.800 GeneticVariation UNIPROT CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511

2015
dbSNP: rs150857620
rs150857620
CLPB
0.800 GeneticVariation UNIPROT CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510

2015
dbSNP: rs748915609
rs748915609
CLPB
0.800 GeneticVariation UNIPROT CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511

2015
dbSNP: rs748915609
rs748915609
CLPB
0.800 GeneticVariation UNIPROT CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510

2015
dbSNP: rs759500860
rs759500860
CLPB
0.800 GeneticVariation UNIPROT CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511

2015
dbSNP: rs759500860
rs759500860
CLPB
0.800 GeneticVariation UNIPROT CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510

2015
dbSNP: rs777313457
rs777313457
CLPB
0.800 GeneticVariation UNIPROT CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511

2015
dbSNP: rs777313457
rs777313457
CLPB
0.800 GeneticVariation UNIPROT CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510

2015
dbSNP: rs144078282
rs144078282
CLPB
0.800 GeneticVariation UNIPROT

dbSNP: rs200032855
rs200032855
CLPB
0.700 GeneticVariation UNIPROT CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511

2015
dbSNP: rs200032855
rs200032855
CLPB
0.700 GeneticVariation UNIPROT CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510

2015