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: rs121908590
rs121908590 		1.000 0.080 12 5045270 stop gained G/A;T snv
CUI: C2677106
Disease: Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 7 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs121908592
rs121908592 		1.000 0.080 12 5045874 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C2677106
Disease: Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 7 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs121908593
rs121908593 		0.925 0.080 12 5045975 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C2677106
Disease: Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 7 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs148708451
rs148708451 		1.000 0.080 12 5045045 missense variant G/A;C;T snv 2.5E-04; 8.1E-06; 4.1E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777336
rs587777336 		1.000 0.080 12 5044290 missense variant A/G snv 1.4E-05
CUI: C2677106
Disease: Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 7 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs10744676
rs10744676 		0.925 0.080 12 5043783 upstream gene variant C/T snv 0.88
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10744676
rs10744676 		0.925 0.080 12 5043783 upstream gene variant C/T snv 0.88
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121908591
rs121908591 		1.000 0.080 12 5045727 missense variant C/T snv 1.4E-04 4.9E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121908593
rs121908593 		0.925 0.080 12 5045975 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1370940194
rs1370940194 		12 5044419 missense variant C/T snv 4.4E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs202117321
rs202117321 		1.000 0.080 12 5044611 missense variant A/G snv 7.2E-05 7.0E-05
CUI: C0340489
Disease: Lone atrial fibrillation
Lone atrial fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs71584818
rs71584818 		12 5044245 missense variant A/T snv 2.4E-04 2.0E-04
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007