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: rs17239074
rs17239074 		13 30739088 intron variant C/A;G snv 1.3E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17239074
rs17239074 		13 30739088 intron variant C/A;G snv 1.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3885907
rs3885907 		13 30740318 intron variant C/A snv 0.58
CUI: C3822559
Disease: response to epirubicin
response to epirubicin 		0.700 1.000 1 2013 2013
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0231926
Disease: Ventilatory defect
Ventilatory defect 		Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10507391
rs10507391 		0.776 0.320 13 30737959 intron variant A/T snv 0.52
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs12429692
rs12429692 		1.000 0.080 13 30738041 intron variant A/T snv 0.24
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12429692
rs12429692 		1.000 0.080 13 30738041 intron variant A/T snv 0.24
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1383209302
rs1383209302 		0.925 0.160 13 30756000 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1383209302
rs1383209302 		0.925 0.160 13 30756000 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17222772
rs17222772 		0.925 0.120 13 30737959 intron variant A/T snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17222772
rs17222772 		0.925 0.120 13 30737959 intron variant A/T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17222772
rs17222772 		0.925 0.120 13 30737959 intron variant A/T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17222919
rs17222919 		1.000 0.080 13 30734192 intron variant T/A;G snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3803277
rs3803277 		13 30744171 non coding transcript exon variant C/A snv 0.49 0.45
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3803278
rs3803278 		13 30744264 non coding transcript exon variant T/C snv 0.20
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4073259
rs4073259 		0.882 0.160 13 30732134 intron variant G/A snv 0.49
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4073259
rs4073259 		0.882 0.160 13 30732134 intron variant G/A snv 0.49
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4073259
rs4073259 		0.882 0.160 13 30732134 intron variant G/A snv 0.49
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4147064
rs4147064 		1.000 0.120 13 30745981 intron variant T/C snv 0.50
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012