Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018