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: rs587777556
rs587777556 		0.925 0.120 11 123642502 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C2751088
Disease: Brugada Syndrome 7
Brugada Syndrome 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2010 2011
dbSNP: rs587777557
rs587777557 		0.925 0.080 11 123638288 missense variant A/G snv 4.0E-06
CUI: C2751088
Disease: Brugada Syndrome 7
Brugada Syndrome 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2010 2011
dbSNP: rs587777558
rs587777558 		0.925 0.080 11 123653785 missense variant C/T snv
CUI: C2751088
Disease: Brugada Syndrome 7
Brugada Syndrome 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2010 2011
dbSNP: rs147205617
rs147205617 		1.000 0.080 11 123642563 missense variant C/T snv 3.1E-04 3.1E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.700 1.000 1 2016 2016
dbSNP: rs3851101
rs3851101 		1.000 0.040 11 123653388 intron variant A/G snv 0.15
CUI: C0270496
Disease: Schizoaffective disorder, bipolar type
Schizoaffective disorder, bipolar type 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs879253730
rs879253730 		11 123642468 missense variant G/C snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879253730
rs879253730 		11 123642468 missense variant G/C snv
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.700 1.000 1 2016 2016
dbSNP: rs121918282
rs121918282 		0.882 0.080 11 123653773 missense variant A/G snv 2.0E-04 3.5E-04
CUI: C4013699
Disease: ATRIAL FIBRILLATION, FAMILIAL, 16
ATRIAL FIBRILLATION, FAMILIAL, 16 		0.700 0
dbSNP: rs121918282
rs121918282 		0.882 0.080 11 123653773 missense variant A/G snv 2.0E-04 3.5E-04
CUI: C2751088
Disease: Brugada Syndrome 7
Brugada Syndrome 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs375755770
rs375755770 		1.000 0.080 11 123638187 missense variant C/T snv 8.8E-05 1.6E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587777557
rs587777557 		0.925 0.080 11 123638288 missense variant A/G snv 4.0E-06
CUI: C4013699
Disease: ATRIAL FIBRILLATION, FAMILIAL, 16
ATRIAL FIBRILLATION, FAMILIAL, 16 		0.700 0
dbSNP: rs587777558
rs587777558 		0.925 0.080 11 123653785 missense variant C/T snv
CUI: C4013699
Disease: ATRIAL FIBRILLATION, FAMILIAL, 16
ATRIAL FIBRILLATION, FAMILIAL, 16 		0.700 0
dbSNP: rs121918282
rs121918282 		0.882 0.080 11 123653773 missense variant A/G snv 2.0E-04 3.5E-04
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1412069210
rs1412069210 		1.000 0.080 11 123638277 missense variant G/T snv 7.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs147205617
rs147205617 		1.000 0.080 11 123642563 missense variant C/T snv 3.1E-04 3.1E-04
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1783901
rs1783901 		11 123642798 intron variant C/T snv 0.24
CUI: C0042571
Disease: Vertigo
Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs587777556
rs587777556 		0.925 0.120 11 123642502 missense variant G/A;T 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 2010 2010