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: rs1199713333
rs1199713333 		0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1199713333
rs1199713333 		0.925 0.040 12 2593318 missense variant C/T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1343191564
rs1343191564 		1.000 0.120 12 2688616 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1373685560
rs1373685560 		1.000 0.080 12 2608570 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs186867242
rs186867242 		1.000 0.200 12 2686232 missense variant A/G snv 2.2E-04 4.9E-05
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs192749597
rs192749597 		0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs192749597
rs192749597 		0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs192749597
rs192749597 		0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1990322
rs1990322 		1.000 0.040 12 2651804 intron variant G/A snv 0.69 0.57
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs199473391
rs199473391 		1.000 0.040 12 2607117 stop gained G/A;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs199473391
rs199473391 		1.000 0.040 12 2607117 stop gained G/A;T snv
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2007044
rs2007044 		0.882 0.040 12 2235794 intron variant A/G snv 0.50
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2007044
rs2007044 		0.882 0.040 12 2235794 intron variant A/G snv 0.50
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs215976
rs215976 		12 2585472 missense variant C/G;T snv 0.11
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs216008
rs216008 		1.000 0.080 12 2611971 synonymous variant C/T snv 0.21 0.21
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs216008
rs216008 		1.000 0.080 12 2611971 synonymous variant C/T snv 0.21 0.21
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2238032
rs2238032 		0.925 0.040 12 2113566 intron variant T/C;G snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2238032
rs2238032 		0.925 0.040 12 2113566 intron variant T/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2239050
rs2239050 		1.000 0.080 12 2338248 intron variant G/A;C snv
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2239073
rs2239073 		1.000 0.040 12 2429334 intron variant T/C snv 0.50
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs2239104
rs2239104 		1.000 0.040 12 2514377 intron variant T/G snv 0.20
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2283291
rs2283291 		1.000 0.040 12 2228294 intron variant G/A snv 0.51
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2299661
rs2299661 		1.000 0.040 12 2115062 intron variant C/A;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2299661
rs2299661 		1.000 0.040 12 2115062 intron variant C/A;G snv
CUI: C0030975
Disease: Perceptual Disorders
Perceptual Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs374528680
rs374528680 		0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05
CUI: C0018794
Disease: Heart Block
Heart Block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016