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: rs4998386
rs4998386 		1.000 0.040 16 9976688 intron variant C/T snv 0.11
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.030 0.667 3 2011 2018
dbSNP: rs4998386
rs4998386 		1.000 0.040 16 9976688 intron variant C/T snv 0.11
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.020 0.500 2 2014 2018
dbSNP: rs3104703
rs3104703 		1.000 0.080 16 9971279 intron variant T/G snv 0.48
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1057524089
rs1057524089 		1.000 16 9938479 stop gained G/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 0
dbSNP: rs587780353
rs587780353 		1.000 0.040 16 9938419 missense variant A/T snv 4.4E-05 4.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs387906637
rs387906637 		1.000 16 9938314 stop gained G/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 0
dbSNP: rs1238779318
rs1238779318 		1.000 0.040 16 9938274 missense variant C/G;T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs199528312
rs199528312 		1.000 16 9938097 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs397518465
rs397518465 		0.925 0.040 16 9937958 splice donor variant C/A;T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 4 2013 2017
dbSNP: rs397518465
rs397518465 		0.925 0.040 16 9937958 splice donor variant C/A;T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16966656
rs16966656 		0.925 0.040 16 9898362 intron variant C/A;G snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16966656
rs16966656 		0.925 0.040 16 9898362 intron variant C/A;G snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs761168789
rs761168789 		1.000 16 9891000 missense variant G/A snv 4.0E-06
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 0
dbSNP: rs17800861
rs17800861 		16 9859815 intron variant T/A snv 7.5E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs9922678
rs9922678 		1.000 0.040 16 9852462 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 4 2014 2019
dbSNP: rs397518469
rs397518469 		1.000 16 9849963 splice acceptor variant T/C snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 0
dbSNP: rs2229193
rs2229193 		1.000 0.040 16 9849809 synonymous variant C/T snv 0.25 0.28
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1555496111
rs1555496111 		0.925 0.040 16 9849778 missense variant A/G snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs1555496111
rs1555496111 		0.925 0.040 16 9849778 missense variant A/G snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs779989663
rs779989663 		0.925 0.040 16 9841092 missense variant A/T snv 4.8E-05 7.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs779989663
rs779989663 		0.925 0.040 16 9841092 missense variant A/T snv 4.8E-05 7.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1360906241
rs1360906241 		1.000 16 9840788 missense variant G/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs796052543
rs796052543 		1.000 16 9840781 missense variant A/G snv 1.5E-05
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 0
dbSNP: rs397518470
rs397518470 		1.000 16 9840745 missense variant C/A;T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 1.000 13 2010 2017
dbSNP: rs397518468
rs397518468 		1.000 16 9840706 missense variant G/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017