Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434580
rs121434580 		0.925 0.080 1 2027636 missense variant A/C snv
CUI: C2751603
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2004 2004
dbSNP: rs139300921
rs139300921 		1.000 1 2028259 missense variant C/T snv 9.3E-04 8.1E-04
CUI: C2751603
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2004 2004
dbSNP: rs121434580
rs121434580 		0.925 0.080 1 2027636 missense variant A/C snv
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2376805
rs2376805 		1 2024923 non coding transcript exon variant G/A snv 0.80 0.81
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs41307846
rs41307846 		1.000 0.040 1 2028260 missense variant G/A snv 1.7E-02 1.7E-02
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2005 2005