Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557644984
rs1557644984
SLC2A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs758946412
rs758946412
PCDH19
CG 0.700 CausalMutation CLINVAR

dbSNP: rs774843232
rs774843232
PGAP2
C 0.700 CausalMutation CLINVAR

dbSNP: rs41292285
rs41292285
CACNA1H
0.010 GeneticVariation BEFREE We report expression system-dependent effects of heterozygous mutations (P769L and A1059S) in the Cav3.2 CACNA1H gene identified in a pediatric patient with chronic pain and absence seizures. 26706850

2016
dbSNP: rs540638287
rs540638287
CACNA1H
0.010 GeneticVariation BEFREE We report expression system-dependent effects of heterozygous mutations (P769L and A1059S) in the Cav3.2 CACNA1H gene identified in a pediatric patient with chronic pain and absence seizures. 26706850

2016
dbSNP: rs121909673
rs121909673
GABRG2
0.010 GeneticVariation BEFREE In the present study, the brain uptake of diazepam and phenytoin was assessed in a genetic mouse model of absence seizures harbouring a human GABA(A) receptor gamma2-subunit gene GABRG2 mutation (R43Q) and results were compared with those obtained during acute seizures induced by subcutaneous administration of pentylenetetrazole (PTZ; 90 mg/kg). 20082623

2010