Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853280
rs878853280
A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016

dbSNP: rs878853281
rs878853281
T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016

dbSNP: rs878853282
rs878853282
A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016

dbSNP: rs878853283
rs878853283
AT 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016

dbSNP: rs398122394
rs398122394
G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013

dbSNP: rs1064794533
rs1064794533
A 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
A 0.700 CausalMutation CLINVAR

dbSNP: rs147484110
rs147484110
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554504684
rs1554504684
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555731819
rs1555731819
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1562114190
rs1562114190
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569525894
rs1569525894
A 0.700 GeneticVariation CLINVAR

dbSNP: rs374052333
rs374052333
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052505
rs796052505
A 0.700 CausalMutation CLINVAR

dbSNP: rs1386710060
rs1386710060
0.010 GeneticVariation BEFREE We identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate novel genetic cause of chorea in the proband. 29392776

2018

dbSNP: rs587777057
rs587777057
0.010 GeneticVariation BEFREE The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. 28202424

2017

dbSNP: rs796065306
rs796065306
0.010 GeneticVariation BEFREE In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea. 26537056

2015

dbSNP: rs864309484
rs864309484
0.010 GeneticVariation BEFREE In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. 26537056

2015

dbSNP: rs121918304
rs121918304
0.010 GeneticVariation BEFREE FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family. 25169713

2014

dbSNP: rs6280
rs6280
0.010 GeneticVariation BEFREE Stepwise regression analysis revealed no effect of DRD3 Ser9Gly on chorea, dystonia, or motor fluctuations in PD, despite incorporating established clinical risk factors to avoid overlooking an effect of genotype. 19353703

2009