Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519286
rs1057519286
MECR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519287
rs1057519287
MECR
G 0.700 GeneticVariation CLINVAR

dbSNP: rs145192716
rs145192716
MECR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs756421370
rs756421370
MECR
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs759218713
rs759218713
MECR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs762913101
rs762913101
MECR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730882147
rs730882147
MED20
0.010 GeneticVariation BEFREE We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy. 25446406

2015
dbSNP: rs895293055
rs895293055
MED20
0.010 GeneticVariation BEFREE We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy. 25446406

2015