Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114402678
rs114402678
CPA6 ; LOC102724708
CUI: C3280734
Disease: FEBRILE SEIZURES, FAMILIAL, 11
FEBRILE SEIZURES, FAMILIAL, 11 		A 0.800 CausalMutation CLINVAR

dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 		T 0.800 CausalMutation CLINVAR

dbSNP: rs139145929
rs139145929
CPA6 ; LOC102724708
CUI: C0014544
Disease: Epilepsy
Epilepsy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
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: rs35993949
rs35993949
CPA6
CUI: C0009676
Disease: Confusion
Confusion 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
CUI: C0036572
Disease: Seizures
Seizures 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
CUI: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 		C 0.700 CausalMutation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs35993949
rs35993949
CPA6
CUI: C0030252
Disease: Palpitations
Palpitations 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs376266840
rs376266840
CPA6
CUI: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 		C 0.700 CausalMutation CLINVAR

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: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C0030252
Disease: Palpitations
Palpitations 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs61738009
rs61738009
CPA6 ; LOC102724708
CUI: C0009676
Disease: Confusion
Confusion 		T 0.700 GeneticVariation CLINVAR