Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794533
rs1064794533
GNAO1
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 CausalMutation CLINVAR

dbSNP: rs147484110
rs147484110
CSTB
CUI: C0008489
Disease: Chorea
Chorea 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554504684
rs1554504684
RHOBTB2
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555731819
rs1555731819
KMT2B
CUI: C0008489
Disease: Chorea
Chorea 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
CUI: C0008489
Disease: Chorea
Chorea 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
CUI: C0008489
Disease: Chorea
Chorea 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs398122394
rs398122394
ALG13
CUI: C0008489
Disease: Chorea
Chorea 		G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs796052505
rs796052505
GABRG2
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 CausalMutation CLINVAR

dbSNP: rs878853280
rs878853280
FRRS1L
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853281
rs878853281
FRRS1L
CUI: C0008489
Disease: Chorea
Chorea 		T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853282
rs878853282
FRRS1L
CUI: C0008489
Disease: Chorea
Chorea 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853283
rs878853283
FRRS1L
CUI: C0008489
Disease: Chorea
Chorea 		AT 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016