Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852973
rs137852973
0.010 GeneticVariation BEFREE Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 20806400

2010

dbSNP: rs143319805
rs143319805
0.010 GeneticVariation BEFREE Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000). 27879217

2016

dbSNP: rs201920319
rs201920319
0.010 GeneticVariation BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223

2016

dbSNP: rs431905511
rs431905511
0.010 GeneticVariation BEFREE G51D was associated with an unusual PD phenotype characterized by early disease onset, moderate response to levodopa, rapid progression leading to loss of autonomy and death within a few years, marked pyramidal signs including bilateral extensor plantar reflexes, occasionally spasticity, and frequently psychiatric symptoms. 23526723

2013

dbSNP: rs747176196
rs747176196
0.010 GeneticVariation BEFREE Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. 27307223

2016

dbSNP: rs201650281
rs201650281
A 0.700 CausalMutation CLINVAR

dbSNP: rs375817528
rs375817528
A 0.700 GeneticVariation CLINVAR

dbSNP: rs772410450
rs772410450
C 0.700 CausalMutation CLINVAR

dbSNP: rs781934508
rs781934508
T 0.700 GeneticVariation CLINVAR

dbSNP: rs782316919
rs782316919
C 0.700 CausalMutation CLINVAR