Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs879253753
rs879253753
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1555525115
rs1555525115
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1567230528
rs1567230528
AP4E1
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs375761808
rs375761808
ARID1A
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1557612048
rs1557612048
ARID1A
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs387907144
rs387907144
ARID1B
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs387907144
rs387907144
ARID1B
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs932485786
rs932485786
ARX
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886043994
rs886043994
ASXL1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs879255368
rs879255368
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs606231435
rs606231435
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs542652468
rs542652468
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606670
rs267606670
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516032
rs1057516032
ATP1A3
CUI: C0036572
Disease: Seizures
Seizures 		GA 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: rs72554640
rs72554640
ATP7A ; PGK1
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795760
rs1064795760
BICD2
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555155556
rs1555155556
BORCS5
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1568070621
rs1568070621
BPTF
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397507476
rs397507476
BRAF
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs397507476
rs397507476
BRAF
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs397507476
rs397507476
BRAF
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs1555745467
rs1555745467
CACNA1A
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR