Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045642
rs1045642
0.010 GeneticVariation BEFREE Subjects with either C/T or C/C (n = 16) genotypes showed a three-fold greater improvement than T/T MDR1 C3435T genotype (n = 6) (mean decrease of 15.1 +/- 12.6, or 50.7% from baseline, versus 4.5 +/- 5.1, or 15.6% from baseline) in parent-rated ABC Hyperactivity scores over 8 weeks (p = 0.03). 20166790

2010

dbSNP: rs104893877
rs104893877
0.040 GeneticVariation BEFREE These results indicate a possible role of the A53T alpha-Syn mutation in anxiety-like and hyperactive behaviors in a PD mouse model, suggesting that these behaviors might be comorbid with this disease. 20077428

2010

dbSNP: rs104893877
rs104893877
0.040 GeneticVariation BEFREE In the present study, we reported transgenic mice with overexpressing human A53T alpha-synuclein, as well as WT mice with high dietary iron displayed hyperactive motor coordination and impaired colonic motility, compared with those with basal dietary iron. 29681846

2018

dbSNP: rs104893877
rs104893877
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: rs104893877
rs104893877
0.040 GeneticVariation BEFREE The 12-month A53T-transgenic mouse displayed hyperactive movement and anxiolytic-like behaviors with α-synuclein aggregation in midbrain. 27965467

2017

dbSNP: rs104893878
rs104893878
0.010 GeneticVariation BEFREE Our present data indicate that mutant (A30P) α-syn is directly implicated in reduction of dopamine signaling in OB interneurons, which mediates further alterations in brain regions without transgenic expression leading functionally to a hyperactive response. 21767644

2011

dbSNP: rs104895321
rs104895321
MVK
0.010 GeneticVariation BEFREE Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype. 24656624

2014

dbSNP: rs104895358
rs104895358
MVK
0.010 GeneticVariation BEFREE Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever. 27899390

2016

dbSNP: rs1051266
rs1051266
0.010 GeneticVariation BEFREE Hyperactivity-impulsivity score revealed association with rs5742905 'TT' and rs2236225 'CC', while rs1801133 'CC' showed association with inattentiveness and hyperactivity-impulsivity. rs1801131 exhibited strong synergistic interaction with rs1051266 and rs2236225. 28250422

2017

dbSNP: rs1057518011
rs1057518011
0.010 GeneticVariation BEFREE Here we present five subjects from three novel SCA21 families from different parts of the world (including a novel c.196G > A, p.G66R TMEM240 variant from Colombia), demonstrating that, in addition to cerebellar ataxia, not only hypokinetic features (hypomimia, bradykinesia), but also hyperkinetic movement disorders (poly-mini-myoclonus, proximal myoclonus) are a recurrent part of the phenotypic spectrum of SCA21. 30522958

2019

dbSNP: rs1057518644
rs1057518644
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519475
rs1057519475
0.010 GeneticVariation BEFREE The presence of an intact N-terminal activation domain in the truncated proteins p.Y47X and p.Q106X may underlie their associated transactivation hyperactivity by a gain-of-function mechanism involving dysregulated protein-protein interactions. 25786029

2015

dbSNP: rs1057519866
rs1057519866
0.010 GeneticVariation BEFREE On the other hand, expression of green fluorescent protein (GFP)-fused wild type or hyperactive mutant (R367Q) cN-II increased the activity and also decreased the sensitivity to nucleoside analogues. 25998135

2015

dbSNP: rs1060504185
rs1060504185
0.010 GeneticVariation BEFREE In contrast, mice expressing the INK4-insensitive, hyperactive Cdk6(R31C) allele displayed excess proliferation in LSK and thymocytes. 21508411

2011

dbSNP: rs10938397
rs10938397
0.010 GeneticVariation BEFREE In the German sample rs206936 (NUDT3) and rs10938397 in the glucosamine-6-phosphate deaminase 2 gene (GNPDA2) were associated with inattention, whereas markers in the mitogen-activated protein kinase 5 gene (MAP2K5) and in the cell adhesion molecule 2 gene (CADM2) were associated with hyperactivity. 23533005

2013

dbSNP: rs113488022
rs113488022
0.040 GeneticVariation BEFREE Expression of hyperactive RAF kinases, such as the oncogenic B-RAF-V600E mutant, in normal human cells triggers a proliferative arrest that blocks tumor formation. 31371485

2019

dbSNP: rs113488022
rs113488022
0.040 GeneticVariation BEFREE Additionally, while over-expression of mutant BRAF(V600E) increased both Mcl-1L and Mcl-1S expression, inhibition of hyperactive BRAF signalling resulted in decreased Mcl-1L expression. 24118207

2013

dbSNP: rs113488022
rs113488022
0.040 GeneticVariation BEFREE Fourty percent of all melanomas harbor a mutation in the signaling adaptor BRAF (V600E) that results in ERK hyperactivity as an oncogenic driver. 29983861

2018

dbSNP: rs113488022
rs113488022
0.040 GeneticVariation BEFREE In colorectal cancer, BRAF V600E was described to functionally cooperate with RAC1b, a hyperactive splice variant of the small GTPase RAC1, to sustain cell survival. 23482591

2013

dbSNP: rs1156401234
rs1156401234
0.010 GeneticVariation BEFREE Further, in dopaminergic neurons derived from LRRK2 G2019S PD patient-induced pluripotent stem cells, we demonstrated that either P110 treatment or expression of Drp1(T595A) reduced mitochondrial impairment, lysosomal hyperactivity and neurite shortening. 23813973

2013

dbSNP: rs1170695
rs1170695
0.010 GeneticVariation BEFREE In addition, rs1170695 has been found to be associated with the ADHD risk in the addictive model (OR=1.457, 95%CI=1.173-1.809), while rs9990174 was associated with the Hyperactive index score (P=0.010). 28442423

2017

dbSNP: rs1217691063
rs1217691063
0.020 GeneticVariation BEFREE Our results indicate an association of hyper-tHcy and MTHFR C677T mutation with hypertension. 18855261

2008

dbSNP: rs1217691063
rs1217691063
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: rs121908153
rs121908153
0.010 GeneticVariation BEFREE We generated global and myeloid cell-specific conditional mutant Nlrp3 knock-in mice expressing the D301N Nlrp3 mutation (ortholog of D303N in human NLRP3), resulting in a hyperactive NLRP3. 23813842

2014

dbSNP: rs121908672
rs121908672
0.010 GeneticVariation BEFREE To test whether increased Wnt signaling can compensate for the defect in periosteal growth caused by Bmpr1a deletion, we have generated compound mutants harboring a hyperactive mutation (A214V) in the Wnt receptor Lrp5. 28607813

2017