Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1344706
rs1344706
ZNF804A
0.010 GeneticVariation BEFREE We found the risk allele (T) in ZNF804A rs1344706, compared to the non-risk allele (G), was associated with thinner cortex in the bilateral precuneus, left precentral gyrus, and several other regions, associated with a smaller cortical surface area in the left superior parietal, precuneus cortex and left superior frontal, and associated with a lower cortical volume in the left superior frontal, left precentral, and right precuneus in SZ patients. 25921517

2015
dbSNP: rs1554208945
rs1554208945
ZNF292
C 0.700 GeneticVariation CLINVAR

dbSNP: rs869320713
rs869320713
ZMYND11 ; LOC107984190
A 0.700 CausalMutation CLINVAR Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958

2014
dbSNP: rs1060499626
rs1060499626
ZMYND11
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
A 0.700 CausalMutation CLINVAR

dbSNP: rs864309661
rs864309661
WDR45
T 0.700 GeneticVariation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820

2012
dbSNP: rs864309661
rs864309661
WDR45
T 0.700 GeneticVariation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
dbSNP: rs864309661
rs864309661
WDR45
T 0.700 GeneticVariation CLINVAR De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086

2013
dbSNP: rs797046101
rs797046101
WDR45
0.010 GeneticVariation BEFREE Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. 26609730

2015
dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
0.010 GeneticVariation BEFREE The odds ratio indicated a higher risk of early post-traumatic seizure occurrence in male patients (OR 1.96, 95% CI 1.01-3.81, p = 0.043), age over 65 (OR 2.13, 95% CI 1.01-4.48), and with UGT1A6_19T > G/541A > G/552A > C double heterozygosities (OR 2.38, 95% CI 1.11-5.10, p = 0.02), though the power of the difference was between 0.54 to 0.61. 28841884

2017
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
T 0.700 CausalMutation CLINVAR

dbSNP: rs864309508
rs864309508
UBE3A ; SNHG14
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064796460
rs1064796460
TUBA1A
G 0.700 CausalMutation CLINVAR

dbSNP: rs587784491
rs587784491
TUBA1A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918100
rs121918100
TTR
0.010 GeneticVariation BEFREE The phenotype of the ATTR Tyr69His mutation was characterised by oculo-meningeal symptoms with seizures and a steadily progressing dementia, symptoms rarely found in ATTR amyloidosis, but similar to those previously described for this mutation, where all cases appear to originate from one Swedish family. 19922332

2009
dbSNP: rs79977247
rs79977247
TTR
0.010 GeneticVariation BEFREE To describe a patient with oculoleptomeningeal amyloidosis associated with infiltration of the vitreous, elevated intraocular pressures (IOPs), and seizures caused by a TTR Val30Gly mutation in the transthyretin gene. 17980738

2007
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
AA 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs139455627
rs139455627
TSPEAR
A 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs45517281
rs45517281
TSC2
0.010 GeneticVariation BEFREE Mutational analysis of TSC2 indicated the presence of the novel missense change 3106T-->C, 1036S-->P in all family members with seizures. 12913212

2003
dbSNP: rs118203682
rs118203682
TSC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs118203707
rs118203707
TSC1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1301051974
rs1301051974
TSC1
0.010 GeneticVariation BEFREE We report an infant who presented with seizures and cardiac rhabdomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation. 21418539

2011