Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045002
rs797045002
ADCY5
T 0.700 CausalMutation CLINVAR A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. 25545163

2015
dbSNP: rs864309515
rs864309515
ADCY5
T 0.700 CausalMutation CLINVAR ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 26537056

2015
dbSNP: rs796065306
rs796065306
ADCY5
T 0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542

2014
dbSNP: rs797045002
rs797045002
ADCY5
A 0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542

2014
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542

2014
dbSNP: rs797045002
rs797045002
ADCY5
A 0.700 CausalMutation CLINVAR Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511

2012
dbSNP: rs796065306
rs796065306
ADCY5
T 0.700 CausalMutation CLINVAR Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 11310626

2001
dbSNP: rs864309483
rs864309483
ADCY5
A 0.700 CausalMutation CLINVAR Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 11310626

2001
dbSNP: rs864309484
rs864309484
ADCY5
T 0.700 CausalMutation CLINVAR