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: rs730880097
rs730880097
FBN1 ; LOC105370809
0.925 0.160 15 48644769 start lost T/A;C;G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 5 1973 2017
dbSNP: rs730880097
rs730880097
FBN1 ; LOC105370809
0.925 0.160 15 48644769 start lost T/A;C;G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 5 1973 2017
dbSNP: rs886041536
rs886041536
FBN1 ; LOC105370809
1.000 0.160 15 48644768 start lost A/C;G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
0.925 0.160 15 48644767 start lost 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 3 1973 2016
dbSNP: rs886039072
rs886039072
FBN1 ; LOC105370809
0.925 0.160 15 48644767 start lost C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 3 1973 2016
dbSNP: rs397515785
rs397515785
FBN1 ; LOC105370809
1.000 0.160 15 48644728 frameshift variant TAAATCCCAGG/- delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 1 2002 2002
dbSNP: rs1555407423
rs1555407423
FBN1 ; LOC105370809
1.000 0.160 15 48644718 frameshift variant C/- del
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs193922218
rs193922218
FBN1 ; LOC105370809
1.000 0.160 15 48644714 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs201309310
rs201309310
FBN1 ; LOC105370809
0.925 0.040 15 48644711 missense variant T/C snv 1.5E-04 1.5E-04
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.700 0
dbSNP: rs201309310
rs201309310
FBN1 ; LOC105370809
0.925 0.040 15 48644711 missense variant T/C snv 1.5E-04 1.5E-04
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555407414
rs1555407414
FBN1 ; LOC105370809
1.000 0.160 15 48644646 frameshift variant C/- delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs1566944839
rs1566944839
FBN1 ; LOC105370809
0.925 0.160 15 48644644 frameshift variant G/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2001 2001
dbSNP: rs1566944839
rs1566944839
FBN1 ; LOC105370809
0.925 0.160 15 48644644 frameshift variant G/- delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 1 2001 2001
dbSNP: rs1555407399
rs1555407399
FBN1 ; LOC105370809
1.000 0.160 15 48644605 frameshift variant C/- delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs794728213
rs794728213
FBN1 ; LOC105370809
1.000 0.160 15 48644605 splice donor variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs727503058
rs727503058
FBN1 ; LOC105370809
1.000 0.160 15 48644604 splice donor variant A/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs1555405673
rs1555405673
FBN1
1.000 0.160 15 48613081 missense variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs25403
rs25403
FBN1
0.882 0.200 15 48613073 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 7 2002 2016
dbSNP: rs25403
rs25403
FBN1
0.882 0.200 15 48613073 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 7 2002 2016
dbSNP: rs145942328
rs145942328
FBN1
1.000 0.160 15 48613072 missense variant C/T snv 5.6E-05 1.2E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs1303389437
rs1303389437
FBN1
1.000 0.160 15 48613069 missense variant T/C snv 4.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs774371494
rs774371494
FBN1
1.000 0.160 15 48613060 missense variant T/A;C snv 4.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs1555405664
rs1555405664
FBN1
1.000 0.160 15 48613053 inframe insertion -/ACA delins
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs1555405658
rs1555405658
FBN1
1.000 0.160 15 48613046 missense variant A/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 0
dbSNP: rs1566938153
rs1566938153
FBN1
1.000 15 48613020 frameshift variant -/T delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0