Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518644
rs1057518644
HGSNAT
T 0.700 CausalMutation CLINVAR

dbSNP: rs148881970
rs148881970
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553920379
rs1553920379
PPP3CA
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
T 0.700 CausalMutation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906846
rs387906846
ARID1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
A 0.700 CausalMutation CLINVAR

dbSNP: rs555145190
rs555145190
NAGLU
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776625
rs587776625
ADGRG1
T 0.700 CausalMutation CLINVAR

dbSNP: rs606231193
rs606231193
PQBP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs875989800
rs875989800
SMARCB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs879253767
rs879253767
SCN2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1217691063
rs1217691063
MTHFR
0.020 GeneticVariation BEFREE Data are conflicting concerning risk for ischemic stroke associated with hyperhomocyst(e)inemia (hyper-Hcy) and a common polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR 677C-->T), which predisposes to hyper-Hcy in vivo. 12196644

2002
dbSNP: rs63750756
rs63750756
MAPT
0.020 GeneticVariation BEFREE We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases. 12573870

2003
dbSNP: rs397507548
rs397507548
PTPN11
0.010 GeneticVariation BEFREE Gln506Pro is predicted, by modeling analysis, to seriously disrupt the normal contacts between the regulating N-SH2 and the active PTP domains, leading to hyperactivity of the phosphatase. 14961557

2003
dbSNP: rs397509345
rs397509345
PTPN11
0.010 GeneticVariation BEFREE Gln506Pro is predicted, by modeling analysis, to seriously disrupt the normal contacts between the regulating N-SH2 and the active PTP domains, leading to hyperactivity of the phosphatase. 14961557

2003
dbSNP: rs5569
rs5569
SLC6A2
0.010 GeneticVariation BEFREE A significant association was found between norepinephrine transporter gene G1287A genotypes and response to methylphenidate for hyperactive-impulsive subscale scores (mean score reduction was 7.15 and 6.94 for G/G and G/A genotype, respectively, and 2.13 for A/A; p = .012) but not inattentive scores. 15322419

2004
dbSNP: rs63750756
rs63750756
MAPT
0.020 GeneticVariation BEFREE In open field test, N279K mice showed hyperactivity in locomotion and rearing. 16219306

2005
dbSNP: rs104893877
rs104893877
SNCA
0.040 GeneticVariation BEFREE Thus, expression of A</span>53T mutant human alpha-synuclein in mice results in adult-onset hyperactivity associated with D1 receptor and dopamine transporter-mediated alterations in dopamine neurotransmission. 16230020

2006
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.040 GeneticVariation BEFREE Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, were tested for associations with the ASRS subscales inattention and hyperactivity/impulsivity in N = 203 healthy subjects. 16362639

2006
dbSNP: rs4291
rs4291
ACE
0.020 GeneticVariation BEFREE We could show that SNP rs4291 influences ACE activity and HPA-axis hyperactivity and might therefore represent a common pathophysiologic link for unipolar depression and cardiovascular disease. 16924268

2006
dbSNP: rs121912703
rs121912703
ACE
0.010 GeneticVariation BEFREE Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation. 16958600

2006
dbSNP: rs1800035
rs1800035
ADRA2A
0.010 GeneticVariation BEFREE The N251K polymorphism does not represent a genetic factor to explain the alpha(2A)-adrenoceptor hyperactivity in the brains of depressed suicide victims. 16333651

2006
dbSNP: rs6313
rs6313
HTR2A
0.010 GeneticVariation BEFREE Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, were tested for associations with the ASRS subscales inattention and hyperactivity/impulsivity in N = 203 healthy subjects. 16362639

2006
dbSNP: rs75634836
rs75634836
HTR2A
0.010 GeneticVariation BEFREE Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, were tested for associations with the ASRS subscales inattention and hyperactivity/impulsivity in N = 203 healthy subjects. 16362639

2006