ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Aortic Aneurysm, Familial Thoracic 6 ×
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: rs121434526
rs121434526 		0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 12 2007 2017
dbSNP: rs112602953
rs112602953 		0.925 0.120 10 88943813 missense variant C/G;T snv 4.0E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 10 2007 2017
dbSNP: rs121434528
rs121434528 		0.925 0.120 10 88939543 missense variant G/A snv 7.0E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 10 2007 2017
dbSNP: rs121434527
rs121434527 		0.925 0.120 10 88939542 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 8 2007 2017
dbSNP: rs397516685
rs397516685 		0.882 0.120 10 88939680 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 8 2007 2017
dbSNP: rs794728021
rs794728021 		0.925 0.120 10 88948815 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 9 2010 2015
dbSNP: rs1057521105
rs1057521105 		1.000 0.120 10 88941291 missense variant C/T snv 7.1E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2007 2017
dbSNP: rs112901682
rs112901682 		0.925 0.120 10 88948816 missense variant G/A;C snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2009 2016
dbSNP: rs1554841298
rs1554841298 		1.000 0.120 10 88941384 missense variant A/G snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2007 2017
dbSNP: rs777832794
rs777832794 		1.000 0.120 10 88938074 missense variant G/T snv 6.0E-05 2.8E-05
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2007 2017
dbSNP: rs886039303
rs886039303 		0.882 0.160 10 88941310 missense variant G/A snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 4 2014 2017
dbSNP: rs1254836237
rs1254836237 		1.000 0.120 10 88947270 missense variant G/A;C snv 2.1E-05
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs397515325
rs397515325 		1.000 0.120 10 88947371 missense variant T/C snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727502878
rs727502878 		0.925 0.120 10 88939595 missense variant C/G snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs751300489
rs751300489 		1.000 0.120 10 88941836 missense variant A/G snv 2.0E-05 2.8E-05
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0