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: rs751610198
rs751610198 		1.000 2 27217892 missense variant T/G snv 4.1E-06
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.800 0
dbSNP: rs763410987
rs763410987 		1.000 2 27242098 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 1.000 2 2015 2017
dbSNP: rs13399758
rs13399758 		2 27232858 intron variant T/C snv 0.20
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13399758
rs13399758 		2 27232858 intron variant T/C snv 0.20
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7593448
rs7593448 		2 27226425 non coding transcript exon variant C/G snv 0.46
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1057519262
rs1057519262 		1.000 2 27226128 splice region variant C/T snv
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0
dbSNP: rs139332887
rs139332887 		1.000 2 27239731 missense variant G/A snv 3.4E-04 2.7E-04
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0
dbSNP: rs374122292
rs374122292 		1.000 0.080 2 27222553 missense variant G/A snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs62130681
rs62130681 		1.000 2 27239442 stop gained C/A;T snv 8.0E-06
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0
dbSNP: rs769567624
rs769567624 		1.000 2 27226130 splice acceptor variant G/A snv 4.0E-06
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0
dbSNP: rs778916575
rs778916575 		0.882 0.040 2 27222595 missense variant G/A snv 1.2E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2002 2006
dbSNP: rs371150372
rs371150372 		0.882 0.040 2 27223972 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs371150372
rs371150372 		0.882 0.040 2 27223972 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs371150372
rs371150372 		0.882 0.040 2 27223972 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs763172697
rs763172697 		0.882 0.040 2 27233526 missense variant G/T snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs763172697
rs763172697 		0.882 0.040 2 27233526 missense variant G/T snv 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs763172697
rs763172697 		0.882 0.040 2 27233526 missense variant G/T snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs778916575
rs778916575 		0.882 0.040 2 27222595 missense variant G/A snv 1.2E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs778916575
rs778916575 		0.882 0.040 2 27222595 missense variant G/A snv 1.2E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006