Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114684479
rs114684479
RELN
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs115035120
rs115035120
RELN ; LOC101927870
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs121918817
rs121918817
SCN1A ; SCN1A-AS1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1238779318
rs1238779318
GRIN2A
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1250662891
rs1250662891
GRIN2A
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1306918506
rs1306918506
SZT2
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1381851622
rs1381851622
KCNQ3
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs138282349
rs138282349
KCNT1 ; LOC107987140
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1383795440
rs1383795440
DEPDC5
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs138450474
rs138450474
HPN ; SCN1B
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs143166100
rs143166100
SPTAN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1439688451
rs1439688451
GRIN2A ; LOC105371077
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1441152520
rs1441152520
SPTAN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs145873257
rs145873257
RBFOX1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs147896487
rs147896487
ASAH1 ; LOC101929066
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs150586939
rs150586939
IER3IP1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs150821246
rs150821246
KCNQ3
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1553138299
rs1553138299
SZT2
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1553154643
rs1553154643
SZT2
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1553155982
rs1553155982
SLC2A1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1553574522
rs1553574522
SCN2A
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1554098235
rs1554098235
GABRG2
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1554263366
rs1554263366
EPM2A
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1554626549
rs1554626549
KCNQ3
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018