Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
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 		0.700 1.000 8 2007 2017
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
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 		0.800 1.000 10 2007 2017
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
0.925 0.120 10 88943813 missense variant C/G;T snv 4.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 2007 2012
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
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 		0.700 1.000 8 2009 2016
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
0.925 0.120 10 88948816 missense variant G/A;C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2011 2011
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
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 		0.800 1.000 12 2007 2017
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
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
ACTA2 ; STAMBPL1
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 		0.700 0
dbSNP: rs121434527
rs121434527
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.925 0.120 10 88939542 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.800 1.000 8 2007 2017
dbSNP: rs121434527
rs121434527
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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 		0.800 1.000 10 2007 2017
dbSNP: rs121434528
rs121434528
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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: rs1254836237
rs1254836237
ACTA2 ; STAMBPL1
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 		0.700 1.000 1 2011 2011
dbSNP: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
1.000 0.120 10 88941384 missense variant A/G snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 1.000 8 2007 2017
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
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 		0.700 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
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 		0.800 1.000 1 2014 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2016 2016
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2016 2016
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2010 2010
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203
ACTA2 ; FAS ; STAMBPL1
0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2009 2009
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
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