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: rs864309537
rs864309537 		1.000 15 92953496 missense variant T/C snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 1.000 2 2013 2014
dbSNP: rs864309540
rs864309540 		1.000 15 92972380 missense variant T/C snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 1.000 2 2013 2014
dbSNP: rs1555440555
rs1555440555 		1.000 15 92953386 missense variant T/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 12 2007 2017
dbSNP: rs1555440555
rs1555440555 		1.000 15 92953386 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2007 2017
dbSNP: rs1555445563
rs1555445563 		1.000 15 93012354 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2007 2017
dbSNP: rs1555445685
rs1555445685 		1.000 15 93014770 frameshift variant CT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2007 2017
dbSNP: rs797044912
rs797044912 		1.000 15 93020140 stop gained C/A;T snv 4.0E-06
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 1.000 2 2016 2017
dbSNP: rs1044778
rs1044778 		15 93027556 3 prime UTR variant G/C snv 0.20
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs11632112
rs11632112 		15 92925046 intron variant C/A;G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1555437424
rs1555437424 		1.000 0.040 15 92924407 missense variant G/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555445693
rs1555445693 		1.000 0.040 15 93014832 missense variant C/T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs398122998
rs398122998 		1.000 15 93020076 stop gained G/A snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 1.000 1 2013 2013
dbSNP: rs398123000
rs398123000 		1.000 15 92948970 stop gained C/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 1.000 1 2013 2013
dbSNP: rs62023121
rs62023121 		15 92916223 intron variant C/T snv 0.12
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs62023121
rs62023121 		15 92916223 intron variant C/T snv 0.12
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs62023145
rs62023145 		15 92973876 intron variant T/C snv 0.11
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7179364
rs7179364 		15 92904992 missense variant G/A snv 0.10 0.10
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs755898320
rs755898320 		1.000 0.040 15 93009265 missense variant C/T snv 2.0E-05 6.3E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1057518128
rs1057518128 		1.000 15 92927289 stop gained C/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1060503517
rs1060503517 		1.000 15 92942894 frameshift variant TGGTG/- delins
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1131691515
rs1131691515 		1.000 15 92967419 missense variant C/A;T snv 4.0E-06
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs146691368
rs146691368 		1.000 15 92972337 stop gained C/A;T snv 4.0E-06
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555437851
rs1555437851 		1.000 15 92929038 synonymous variant C/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555439036
rs1555439036 		1.000 15 92939719 splice donor variant G/C snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555439714
rs1555439714 		1.000 15 92944415 stop gained G/A snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0