Source: ALL

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: rs1060501033
rs1060501033
FBN1
0.925 0.160 15 48411045 frameshift variant A/- del
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 2009 2015
dbSNP: rs1555393516
rs1555393516
FBN1
0.925 0.040 15 48411101 frameshift variant -/G delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs886038795
rs886038795
FBN1
0.925 0.160 15 48411118 stop gained G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 2009 2015
dbSNP: rs1555393532
rs1555393532
FBN1
0.925 0.160 15 48411159 missense variant T/C;G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555393551
rs1555393551
FBN1
0.925 0.160 15 48411271 stop gained C/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 2009 2015
dbSNP: rs1566888689
rs1566888689
FBN1
0.925 0.160 15 48411277 frameshift variant T/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 2009 2015
dbSNP: rs137854466
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 1994 2002
dbSNP: rs193922243
rs193922243
FBN1
0.925 0.160 15 48412564 splice region 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 1 2017 2017
dbSNP: rs398122833
rs398122833
FBN1
0.882 0.160 15 48412568 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 2 2011 2014
dbSNP: rs1555393652
rs1555393652
FBN1
0.925 0.160 15 48412622 stop gained T/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs200309328
rs200309328
FBN1
0.925 0.160 15 48412715 stop gained G/A;C 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 6 2004 2016
dbSNP: rs1566889188
rs1566889188
FBN1
0.925 0.160 15 48412739 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 6 1973 2007
dbSNP: rs1555393825
rs1555393825
FBN1
0.925 0.160 15 48415545 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs794728283
rs794728283
FBN1
0.925 0.160 15 48415549 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: rs1555393833
rs1555393833
FBN1
0.925 0.160 15 48415573 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 6 1973 2007
dbSNP: rs794728281
rs794728281
FBN1
0.925 0.160 15 48415582 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 7 1973 2015
dbSNP: rs149062442
rs149062442
FBN1
0.925 0.160 15 48415588 stop gained C/A;T snv 2.0E-05 5.6E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1566889870
rs1566889870
FBN1
0.925 0.160 15 48415600 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 6 1973 2007
dbSNP: rs112196241
rs112196241
FBN1
0.925 0.160 15 48415605 missense variant T/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 6 1973 2009
dbSNP: rs1555393844
rs1555393844
FBN1
0.925 0.160 15 48415610 stop gained G/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2009 2009
dbSNP: rs1555393856
rs1555393856
FBN1
0.925 0.040 15 48415631 stop gained A/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555393858
rs1555393858
FBN1
0.925 0.160 15 48415633 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 7 1973 2016
dbSNP: rs1555393866
rs1555393866
FBN1
0.925 0.160 15 48415666 stop gained G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs794728280
rs794728280
FBN1
0.925 0.160 15 48415671 missense variant T/C 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: rs1060501067
rs1060501067
FBN1
0.925 0.160 15 48415705 frameshift variant -/C delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0