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: 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: 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: rs28934897
rs28934897
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: 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: rs6191
rs6191
NR3C1
0.010 GeneticVariation BEFREE Additionally, both the rs6191 and rs25531 SNPs were significantly associated with the attention deficit factor (P = 0.006, P = 0.003, respectively) but not with the hyperactivity/impulsivity factor in the Swanson, Nolan and Pelham-IV Questionnaire (SNAP-IV) scale. 30707907

2019
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
0.010 GeneticVariation BEFREE Additionally, both the rs6191 and rs25531 SNPs were significantly associated with the attention deficit factor (P = 0.006, P = 0.003, respectively) but not with the hyperactivity/impulsivity factor in the Swanson, Nolan and Pelham-IV Questionnaire (SNAP-IV) scale. 30707907

2019
dbSNP: rs402691
rs402691
PRKCG
0.010 GeneticVariation BEFREE Additionally, haplotype-based association analysis for two SNPs located in Intron 3 (rs402691) and Exon 6 (rs3745406) indicated a significant overall association of the PRKCG locus with the ADHD-hyperactive subscale scores in the combined and Caucasian samples, supporting the relation between impulsive behaviors and the PRKCG gene. 17508994

2007
dbSNP: rs3745406
rs3745406
PRKCG
0.010 GeneticVariation BEFREE Additionally, haplotype-based association analysis for two SNPs located in Intron 3 (rs402691) and Exon 6 (rs3745406) indicated a significant overall association of the PRKCG locus with the ADHD-hyperactive subscale scores in the combined and Caucasian samples, supporting the relation between impulsive behaviors and the PRKCG gene. 17508994

2007
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: 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