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: rs1555582065
rs1555582065
UBTF ; LOC101926967
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906846
rs387906846
ARID1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs555145190
rs555145190
NAGLU
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776625
rs587776625
ADGRG1
T 0.700 CausalMutation CLINVAR

dbSNP: rs148881970
rs148881970
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs875989800
rs875989800
SMARCB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs606231193
rs606231193
PQBP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs879253767
rs879253767
SCN2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553920379
rs1553920379
PPP3CA
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893877
rs104893877
SNCA
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
SNCA
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
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: rs104893877
rs104893877
SNCA
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: rs113488022
rs113488022
BRAF
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
BRAF
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
BRAF
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
BRAF
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: rs121913377
rs121913377
BRAF
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: rs121913377
rs121913377
BRAF
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: rs121913377
rs121913377
BRAF
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: rs121913377
rs121913377
BRAF
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: rs4680
rs4680
COMT ; MIR4761
0.040 GeneticVariation BEFREE SNPs rs6269, rs4633, rs4818, and rs4680, tagging the common putative functional COMT haplotypes, were genotyped in 435 adult subjects with a clinical diagnosis of ADHD and 383 controls and analyzed for association with ADHD and the hyperactivity/impulsivity and inattention dimensions from the Adult ADHD Self-Report Scale (ASRS). 18802928

2009