Source: CLINVAR

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: rs387906592
rs387906592
ACTA2 ; STAMBPL1
0.752 0.280 10 88941309 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 5 2009 2013
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: 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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs746972765
rs746972765
ACTA2 ; STAMBPL1
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: rs794728021
rs794728021
ACTA2 ; STAMBPL1
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: rs397516685
rs397516685
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.882 0.120 10 88939680 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2009 2009
dbSNP: rs727502878
rs727502878
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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: rs193922153
rs193922153
COL1A1
0.925 0.040 17 50189173 missense variant G/A snv 1.5E-04 1.8E-04
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs121912923
rs121912923
COL3A1
0.882 0.160 2 188996479 missense variant G/A;C;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553507180
rs1553507180
COL3A1
0.925 0.040 2 188988083 frameshift variant C/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs869312034
rs869312034
COL3A1
0.925 0.160 2 189006260 splice donor variant G/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553507867
rs1553507867
COL3A1 ; MIR3606
0.925 0.040 2 188994066 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1554799402
rs1554799402
COL5A1
0.925 0.040 9 134785008 missense variant G/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1553517181
rs1553517181
COL5A2
0.925 0.040 2 189084028 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: rs770974455
rs770974455
COL5A2
0.925 0.040 2 189045834 missense variant C/A;T snv 8.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs727503057
rs727503057
FBN1
0.708 0.280 15 48505106 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 1.000 13 1973 2015
dbSNP: rs111401431
rs111401431
FBN1
0.763 0.200 15 48468097 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 12 2000 2016
dbSNP: rs1555395663
rs1555395663
FBN1
0.925 0.160 15 48444648 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 11 1973 2008
dbSNP: rs1555399968
rs1555399968
FBN1
0.925 0.160 15 48508660 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 10 1973 2015
dbSNP: rs1566935517
rs1566935517
FBN1
0.925 0.160 15 48600195 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 10 1973 2012
dbSNP: rs397515786
rs397515786
FBN1
0.925 0.160 15 48488412 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 10 1973 2007
dbSNP: rs1064794282
rs1064794282
FBN1
0.925 0.160 15 48497316 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 2002 2018
dbSNP: rs140593
rs140593
FBN1
0.925 0.160 15 48489896 missense variant C/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1995 2011
dbSNP: rs147195031
rs147195031
FBN1
0.882 0.160 15 48420780 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1973 2016