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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.020 < 0.001 2 2007 2012
dbSNP: rs4906902
rs4906902 		0.724 0.200 15 26774621 intron variant A/G snv 0.15
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		Nervous System Diseases 0.020 < 0.001 2 2007 2012
dbSNP: rs1426217
rs1426217 		1.000 0.040 15 26575978 intron variant A/G snv 0.46
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs2081648
rs2081648 		1.000 0.040 15 26553052 intron variant T/C snv 0.12
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs1555401440
rs1555401440 		1.000 15 26561149 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs1555401440
rs1555401440 		1.000 15 26561149 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2008 2017
dbSNP: rs1555401440
rs1555401440 		1.000 15 26561149 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs886037938
rs886037938 		1.000 15 26621417 missense variant C/T snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.800 1.000 6 2013 2017
dbSNP: rs886037939
rs886037939 		1.000 15 26580456 missense variant T/A snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.800 1.000 6 2013 2017
dbSNP: rs886037940
rs886037940 		1.000 15 26567671 missense variant G/T snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.800 1.000 6 2013 2017
dbSNP: rs886037941
rs886037941 		1.000 15 26561099 missense variant C/T snv
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.800 1.000 6 2013 2017
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: rs71651682
rs71651682 		0.925 0.040 15 26772759 missense variant C/T snv
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.020 1.000 2 2008 2012