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: 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: rs121434526
rs121434526 		0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
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: rs121434527
rs121434527 		0.925 0.120 10 88939542 missense variant C/T snv
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 0
dbSNP: rs121434528
rs121434528 		0.925 0.120 10 88939543 missense variant G/A snv 7.0E-06
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 0
dbSNP: rs2234767
rs2234767 		0.649 0.280 10 88989499 intron variant G/A;T snv 0.15
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.700 0
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: rs727502878
rs727502878 		0.925 0.120 10 88939595 missense variant C/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs746972765
rs746972765 		1.000 10 88941252 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2014 2014
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.800 1.000 1 2011 2011
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: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682 		0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1926203
rs1926203 		0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203 		0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203 		0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010