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: rs12720458
rs12720458 		0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		0.700 0
dbSNP: rs199473466
rs199473466 		0.882 0.120 11 2572975 missense variant T/C snv
CUI: C2732979
Disease: Acquired long QT syndrome
Acquired long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs111978267
rs111978267 		0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs201698592
rs201698592 		0.925 0.080 11 2847916 synonymous variant C/T snv 1.7E-04 2.8E-05
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs111978267
rs111978267 		0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2019 2019
dbSNP: rs1800172
rs1800172 		0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.010 1.000 1 2018 2018
dbSNP: rs79972789
rs79972789 		11 2803343 intron variant C/G;T snv 1.8E-02
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2013 2013
dbSNP: rs163182
rs163182 		0.882 0.160 11 2822986 intron variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs179785
rs179785 		0.925 0.120 11 2760289 intron variant G/A snv 0.51
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.050 1.000 5 2003 2018
dbSNP: rs199472708
rs199472708 		0.882 0.080 11 2572015 missense variant G/A snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2014 2018
dbSNP: rs199472687
rs199472687 		0.827 0.120 11 2527962 missense variant G/A snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2008 2012
dbSNP: rs199472689
rs199472689 		1.000 0.080 11 2527981 missense variant A/G snv 4.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs199472709
rs199472709 		0.790 0.120 11 2572021 missense variant G/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs199473444
rs199473444 		1.000 0.080 11 2445138 missense variant C/T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs199473457
rs199473457 		0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs199956744
rs199956744 		1.000 0.080 11 2572050 missense variant G/A;T snv 1.2E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs75813654
rs75813654 		1.000 0.080 11 2571339 missense variant G/A;C;T snv 1.9E-04; 4.0E-06; 4.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 1 2003 2003
dbSNP: rs120074193
rs120074193 		0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs12720458
rs12720458 		0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs17221854
rs17221854 		0.807 0.120 11 2777990 missense variant C/T snv 1.6E-05
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs199472705
rs199472705 		0.925 0.120 11 2571345 missense variant T/C snv
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs199472708
rs199472708 		0.882 0.080 11 2572015 missense variant G/A snv
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs199472709
rs199472709 		0.790 0.120 11 2572021 missense variant G/A;T snv
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0