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: rs1057519549
rs1057519549 		0.925 0.040 15 26567655 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519549
rs1057519549 		0.925 0.040 15 26567655 missense variant G/A snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1057519550
rs1057519550 		0.925 0.040 15 26621403 missense variant T/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519550
rs1057519550 		0.925 0.040 15 26621403 missense variant T/G snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1064794797
rs1064794797 		1.000 15 26772403 missense variant A/C;G snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1064796514
rs1064796514 		1.000 15 26567658 missense variant G/A;T snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 0
dbSNP: rs1555401942
rs1555401942 		15 26567650 missense variant G/C snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs1567106381
rs1567106381 		1.000 15 26561117 missense variant T/G snv
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		0.700 0
dbSNP: rs1567106381
rs1567106381 		1.000 15 26561117 missense variant T/G snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs25409
rs25409 		0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs71651682
rs71651682 		0.925 0.040 15 26772759 missense variant C/T snv
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 0
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3212335
rs3212335 		1.000 0.080 15 26766994 intron variant C/T snv 0.32
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
dbSNP: rs25409
rs25409 		0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		Nervous System Diseases 0.020 1.000 2 2008 2011
dbSNP: rs25409
rs25409 		0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.020 1.000 2 2008 2011
dbSNP: rs25409
rs25409 		0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs878960
rs878960 		0.925 0.040 15 26683789 intron variant C/G;T snv
CUI: C3840214
Disease: High-functioning autism
High-functioning autism 		Mental Disorders 0.010 1.000 1 2011 2011