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: rs112728248
rs112728248
FBN1
0.925 0.160 15 48448812 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 8 1973 2012
dbSNP: rs140603
rs140603
FBN1
0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 2000 2016
dbSNP: rs140603
rs140603
FBN1
0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 8 1993 2017
dbSNP: rs1555395486
rs1555395486
FBN1
0.925 0.160 15 48441835 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 1973 2015
dbSNP: rs1555395486
rs1555395486
FBN1
0.925 0.160 15 48441835 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2015
dbSNP: rs1555398989
rs1555398989
FBN1
0.925 0.160 15 48492538 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2011
dbSNP: rs1555398989
rs1555398989
FBN1
0.925 0.160 15 48492538 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 8 1973 2011
dbSNP: rs1555400373
rs1555400373
FBN1
0.763 0.200 15 48515393 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 1973 2008
dbSNP: rs1555400373
rs1555400373
FBN1
0.763 0.200 15 48515393 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2008
dbSNP: rs1566892757
rs1566892757
FBN1
0.925 0.160 15 48425480 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2007
dbSNP: rs1566892757
rs1566892757
FBN1
0.925 0.160 15 48425480 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 1973 2007
dbSNP: rs193922228
rs193922228
FBN1
0.763 0.200 15 48430736 missense variant A/G 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 8 1999 2016
dbSNP: rs25404
rs25404
FBN1
0.925 0.160 15 48613009 splice donor variant C/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1993 2013
dbSNP: rs397515757
rs397515757
FBN1
0.752 0.200 15 48515382 splice region variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1999 2015
dbSNP: rs397515804
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1973 2014
dbSNP: rs727503054
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1999 2019
dbSNP: rs730880099
rs730880099
FBN1
0.742 0.200 15 48510125 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2010
dbSNP: rs794728190
rs794728190
FBN1
0.882 0.160 15 48496213 missense variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2010
dbSNP: rs794728190
rs794728190
FBN1
0.882 0.160 15 48496213 missense variant C/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1973 2010
dbSNP: rs794728319
rs794728319
FBN1
0.851 0.160 15 48427731 frameshift variant AT/- del
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 2002 2016
dbSNP: rs886038949
rs886038949
FBN1
0.925 0.160 15 48428459 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 8 1973 2014
dbSNP: rs886038949
rs886038949
FBN1
0.925 0.160 15 48428459 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 8 1973 2014
dbSNP: rs1057518881
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 7 2006 2017
dbSNP: rs1057518881
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/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 7 2006 2017
dbSNP: rs1085307531
rs1085307531
FBN1
0.925 0.160 15 48444585 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 7 1973 2007