Gene: SCN1A-AS1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR

dbSNP: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918735
rs121918735
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918736
rs121918736
SCN1A ; SCN1A-AS1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121918751
rs121918751
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553531385
rs1553531385
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553548194
rs1553548194
SCN1A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
TG 0.700 CausalMutation CLINVAR

dbSNP: rs794726710
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
A 0.700 CausalMutation CLINVAR

dbSNP: rs794726825
rs794726825
SCN1A ; SCN1A-AS1 ; LOC102724058
GT 0.700 CausalMutation CLINVAR

dbSNP: rs794726827
rs794726827
SCN1A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045941
rs797045941
SCN1A ; SCN1A-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs869312670
rs869312670
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR

dbSNP: rs886039529
rs886039529
SCN1A ; SCN1A-AS1 ; LOC102724058
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
0.040 GeneticVariation BEFREE We used a R1648H knock-in mouse model (Scn1a<sup>RH/+</sup>) with mild/asymptomatic phenotype to dissociate the effects of seizures and of the mutation per se. 30659983

2019
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
0.040 GeneticVariation BEFREE We also examined seizure susceptibility in Cnr2 mutants harboring the human SCN1A R1648H (RH) epilepsy mutation and performed Electroencephalography (EEG) analysis to determine whether the loss of CB2Rs would increase spontaneous seizure frequency in Scn1a RH mutant mice. 31758544

2019
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
0.040 GeneticVariation BEFREE To test this hypothesis, we subjected 21-23-day-old mice expressing the human SCN1A GEFS+ mutation R1648H to prolonged hyperthermia, and then examined seizure and behavioral phenotypes during adulthood. 28373025

2017
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
0.040 GeneticVariation BEFREE Knock-in mice heterozygous for the R1648H mutation (Scn1a(RH/+)) have decreased thresholds to induced seizures and infrequent spontaneous seizures, whereas homozygotes display spontaneous seizures and premature lethality. 21156207

2011
dbSNP: rs796052995
rs796052995
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE The study indicated that regardless of other inflammatory factors, brief heat alone increased brain excitability and induced multiple types of seizures in Gabrg2<sup>+/Q390X</sup> mice, suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations. 28505490

2017
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine. 23398611

2013
dbSNP: rs2298771
rs2298771
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE The proportion of AA genotype carriers of rs2298771 A/G with seizure free was significantly higher than that of AG+GG genotype carriers from 3 months to 15 months of follow-up (P < 0.05). 22591328

2012
dbSNP: rs121918815
rs121918815
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE The D1866Y mutation weakens this interaction, demonstrating a novel molecular mechanism leading to seizure susceptibility. 15525788

2004