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: 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: 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: 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: C0030252
Disease: Palpitations
Palpitations 		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: 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: 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: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		0.700 0