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: 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: rs111231312
rs111231312
FBN1
0.925 0.160 15 48468070 stop gained G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 2001 2015
dbSNP: rs137854480
rs137854480
FBN1
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 9 1993 2019
dbSNP: rs140593
rs140593
FBN1
0.925 0.160 15 48489896 missense variant C/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 9 1993 2017
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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2016
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
dbSNP: rs1555397421
rs1555397421
FBN1
0.925 0.160 15 48470745 missense variant A/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 1973 2014
dbSNP: rs1555397421
rs1555397421
FBN1
0.925 0.160 15 48470745 missense variant A/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2014
dbSNP: rs1555399271
rs1555399271
FBN1
0.925 0.160 15 48496177 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2015
dbSNP: rs1555399271
rs1555399271
FBN1
0.925 0.160 15 48496177 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 1973 2015
dbSNP: rs1555405044
rs1555405044
FBN1
0.925 0.160 15 48600181 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2015
dbSNP: rs1555405044
rs1555405044
FBN1
0.925 0.160 15 48600181 missense variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1973 2015
dbSNP: rs1566899500
rs1566899500
FBN1
0.925 0.160 15 48448773 missense variant C/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2010
dbSNP: rs1566899500
rs1566899500
FBN1
0.925 0.160 15 48448773 missense variant C/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 2010
dbSNP: rs25404
rs25404
FBN1
0.925 0.160 15 48613009 splice donor variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1993 2013
dbSNP: rs397515802
rs397515802
FBN1
0.925 0.160 15 48472665 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2010
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2014
dbSNP: rs794728240
rs794728240
FBN1
0.925 0.160 15 48445492 missense variant C/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 1973 2015
dbSNP: rs794728240
rs794728240
FBN1
0.925 0.160 15 48445492 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 1973 2015
dbSNP: rs1060501021
rs1060501021
FBN1
0.925 0.160 15 48494210 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 2002 2015
dbSNP: rs1060501021
rs1060501021
FBN1
0.925 0.160 15 48494210 missense variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 2002 2015
dbSNP: rs1060501055
rs1060501055
FBN1
0.925 0.160 15 48421997 missense variant A/C snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2016
dbSNP: rs1060501055
rs1060501055
FBN1
0.925 0.160 15 48421997 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 8 1973 2016
dbSNP: rs112728248
rs112728248
FBN1
0.925 0.160 15 48448812 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 8 1973 2017