Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039494
rs886039494
GNAO1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs421016
rs421016
GBA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1565962725
rs1565962725
SYT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565922395
rs1565922395
SYT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1565922388
rs1565922388
SYT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554504663
rs1554504663
RHOBTB2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs144900171
rs144900171
SYT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs143657539
rs143657539
PPT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs137852695
rs137852695
PPT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1135402761
rs1135402761
SYT1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553259529
rs1553259529
MPZ
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		TC 0.700 GeneticVariation CLINVAR "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met." 10764043

2000
dbSNP: rs782297546
rs782297546
KMT2A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs1555047506
rs1555047506
KMT2A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs1555046615
rs1555046615
KMT2A
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
dbSNP: rs28929474
rs28929474
SERPINA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. 23632999

2013
dbSNP: rs587781233
rs587781233
UBE3A ; SNHG14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015
dbSNP: rs1555391286
rs1555391286
UBE3A ; SNHG14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. 25884337

2015
dbSNP: rs778127154
rs778127154
ALDH5A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383

1994
dbSNP: rs864309483
rs864309483
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014
dbSNP: rs1553732126
rs1553732126
ADCY5
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		CG 0.700 GeneticVariation CLINVAR 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models. 25379658

2014
dbSNP: rs1057521083
rs1057521083
SATB2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 GeneticVariation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010