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: rs114402678
rs114402678
CPA6 ; LOC102724708
1.000 8 67483797 missense variant G/A snv 7.4E-04 2.9E-03
CUI: C3280734
Disease: FEBRILE SEIZURES, FAMILIAL, 11
FEBRILE SEIZURES, FAMILIAL, 11 		0.800 0
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: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 		0.800 1.000 0 2012 2012
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
dbSNP: rs139145929
rs139145929
CPA6 ; LOC102724708
1.000 0.040 8 67434148 stop gained G/A snv 3.2E-05 2.2E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C0009676
Disease: Confusion
Confusion 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		0.700 0
dbSNP: rs35993949
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03
CUI: C0030252
Disease: Palpitations
Palpitations 		0.700 0
dbSNP: rs376266840
rs376266840
CPA6
1.000 8 67506836 missense variant T/C snv 2.4E-05 3.5E-05
CUI: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 		0.700 0
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: C0030252
Disease: Palpitations
Palpitations 		0.700 0
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: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.700 0
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: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		0.700 0
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: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		0.700 0
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: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		0.700 0
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: C0036572
Disease: Seizures
Seizures 		0.700 0
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: C0009676
Disease: Confusion
Confusion 		0.700 0