Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs974157467
rs974157467
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: rs972548690
rs972548690
RBFOX3
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: rs886039266
rs886039266
DEPDC5
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: rs780805483
rs780805483
SZT2
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: rs780658554
rs780658554
SPTAN1
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: rs768456731
rs768456731
DEPDC5
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: rs766294629
rs766294629
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: rs758630057
rs758630057
CNTNAP2
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: rs755898320
rs755898320
CHD2
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: rs752473314
rs752473314
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: rs752396911
rs752396911
SLC6A1
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: rs751409835
rs751409835
RELN ; LOC101927870
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: rs750459631
rs750459631
GABRG2
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: rs748723710
rs748723710
SZT2
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: rs747241860
rs747241860
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: rs74315442
rs74315442
CSTB
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: rs61738009
rs61738009
CPA6 ; LOC102724708
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: rs587780353
rs587780353
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: rs569997507
rs569997507
SPTAN1
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: rs56271007
rs56271007
STRADA
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: rs55695051
rs55695051
STRADA
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: rs397518465
rs397518465
GRIN2A
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: rs397518465
rs397518465
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: rs397514737
rs397514737
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: rs372761949
rs372761949
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