ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
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: rs2234767
rs2234767 		0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121434526
rs121434526 		0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06
CUI: C1846837
Disease: Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 2 		Cardiovascular Diseases 0.700 0
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: 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: 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: 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: 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: 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
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: rs1353528671
rs1353528671 		1.000 0.040 10 88990905 missense variant T/C snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2013 2014
dbSNP: rs886039303
rs886039303 		0.882 0.160 10 88941310 missense variant G/A snv
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2234767
rs2234767 		0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2013 2016