Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746549806
rs746549806
0.800 GeneticVariation UNIPROT Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. 26657514

2016

dbSNP: rs746549806
rs746549806
0.800 CausalMutation CLINVAR Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. 26657514

2016

dbSNP: rs753611141
rs753611141
0.800 GeneticVariation UNIPROT PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015

dbSNP: rs753611141
rs753611141
0.800 CausalMutation CLINVAR PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015

dbSNP: rs869025292
rs869025292
0.800 CausalMutation CLINVAR PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015

dbSNP: rs869025292
rs869025292
0.800 GeneticVariation UNIPROT PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015

dbSNP: rs869025293
rs869025293
0.800 CausalMutation CLINVAR PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015

dbSNP: rs869025293
rs869025293
0.800 GeneticVariation UNIPROT PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015

dbSNP: rs753611141
rs753611141
0.800 CausalMutation CLINVAR Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. 10528257

1999

dbSNP: rs1057519454
rs1057519454
0.700 CausalMutation CLINVAR

dbSNP: rs573267388
rs573267388
0.700 CausalMutation CLINVAR