Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918628
rs121918628
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1
0.020 GeneticVariation BEFREE A computational model was used to compare the effects of T1174S with those of a typical FHM mutation (Q1489K). 23398611 2013
dbSNP: rs121918628
rs121918628
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1
0.020 GeneticVariation BEFREE We studied the FHM mutation Q1489K by transfecting tsA-201 cells and cultured neurons with human Na(v)1.1. 18632931 2008
dbSNP: rs121918632
rs121918632
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1
0.010 GeneticVariation BEFREE Her symptoms were first suspicious of a transient ischemic attack (TIA), but they were eventually diagnosed as FHM with a c.4495T>C mutation being found in the <i>SCN1A</i> gene. 30498473 2018
dbSNP: rs376885324
rs376885324
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1
0.010 GeneticVariation BEFREE Two missense mutations were found.One novel mutation in SCN1A, encoding α subunit of sodium channel, causing amino acid change M1500V localized to a region encoding inactivation loop between transmembrane domains III and IV of the channel, was detected in a female FHM patient. 26747084 2016
dbSNP: rs121918799
rs121918799
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1832884
Disease:
Hemiplegic migraine, familial type 1
0.010 GeneticVariation BEFREE Modulation of the properties of T1174S can lead to a switch between overall gain and loss of function, consistent with a switch between promigraine end epileptogenic effect and, thus, with coexistence of epileptic and FHM phenotypes in the same family. 23398611 2013