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: rs1800172
rs1800172 		0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03
CUI: C0079035
Disease: Bradyarrhythmia (disorder)
Bradyarrhythmia (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs199472687
rs199472687 		0.827 0.120 11 2527962 missense variant G/A snv
CUI: C0079035
Disease: Bradyarrhythmia (disorder)
Bradyarrhythmia (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12720458
rs12720458 		0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12720459
rs12720459 		0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2007 2014
dbSNP: rs1800172
rs1800172 		0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1057128
rs1057128 		11 2776007 synonymous variant G/A snv 0.21 0.16
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs120074195
rs120074195 		0.925 0.120 11 2572984 missense variant G/A;C snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1415058026
rs1415058026 		11 2588755 missense variant A/G snv 4.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs199472708
rs199472708 		0.882 0.080 11 2572015 missense variant G/A snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs199472762
rs199472762 		1.000 0.120 11 2583540 missense variant C/T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs199473401
rs199473401 		0.925 0.120 11 2570722 missense variant T/C snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs199473405
rs199473405 		1.000 0.120 11 2585249 missense variant A/G snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs397508087
rs397508087 		1.000 0.120 11 2588799 frameshift variant C/-;CC delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs397508101
rs397508101 		11 2847812 inframe deletion CCA/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs794728563
rs794728563 		11 2445260 frameshift variant GCCCGGCGCCCCAGGTCCCGCGC/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs10798
rs10798 		11 2848935 3 prime UTR variant A/G snv 0.44 0.38
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2016 2016
dbSNP: rs12720459
rs12720459 		0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2014 2014
dbSNP: rs199472678
rs199472678 		0.925 0.120 11 2445430 missense variant A/G snv 8.9E-06
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2009 2009
dbSNP: rs199472742
rs199472742 		1.000 0.120 11 2572982 missense variant G/T snv
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2002 2002
dbSNP: rs2074238
rs2074238 		1.000 0.120 11 2463573 intron variant T/A;C snv
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2013 2013
dbSNP: rs8234
rs8234 		11 2848878 3 prime UTR variant A/G snv 0.45 0.38
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2016 2016
dbSNP: rs120074196
rs120074196 		0.882 0.120 11 2572057 missense variant G/A;C snv 4.0E-06
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		0.010 1.000 1 2000 2000
dbSNP: rs151290
rs151290 		1.000 0.080 11 2800385 intron variant A/C snv 0.67
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2019 2019