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: rs1555393647
rs1555393647
FBN1
1.000 15 48412588 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs1156984408
rs1156984408
FBN1
1.000 15 48481682 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2014 2019
dbSNP: rs1566891701
rs1566891701
FBN1
1.000 15 48421675 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 1 2019 2019
dbSNP: rs764203302
rs764203302
FBN1
1.000 15 48452612 missense variant C/T 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 1 2019 2019
dbSNP: rs1555398830
rs1555398830
FBN1
1.000 15 48490037 stop gained C/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1555401011
rs1555401011
FBN1
1.000 15 48526207 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: rs1566888718
rs1566888718
FBN1
1.000 15 48411315 frameshift variant GATGGCTGTCTTCTCAA/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs1566892872
rs1566892872
FBN1
1.000 15 48425770 stop gained G/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1566898120
rs1566898120
FBN1
1.000 15 48444614 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: rs1566900492
rs1566900492
FBN1
1.000 15 48452602 frameshift variant CA/- delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1566900540
rs1566900540
FBN1
1.000 15 48452686 splice acceptor variant T/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1566903914
rs1566903914
FBN1
1.000 15 48465582 frameshift variant -/T delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1566904526
rs1566904526
FBN1
1.000 15 48467985 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: rs1566919637
rs1566919637
FBN1
1.000 15 48526168 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: 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
dbSNP: rs387906625
rs387906625
FBN1
1.000 15 48463219 missense variant T/C snv
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.700 0
dbSNP: rs398122831
rs398122831
FBN1
1.000 15 48412639 frameshift variant TT/- del
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs398122832
rs398122832
FBN1
1.000 15 48412620 frameshift variant TTGGGGTAGCCATTGATCTT/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs794728305
rs794728305
FBN1
1.000 15 48492525 stop gained -/CTAG delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs794728306
rs794728306
FBN1
1.000 15 48487347 frameshift variant -/AGGC delins 4.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs794728315
rs794728315
FBN1
1.000 15 48441718 splice donor variant -/A delins 8.0E-06 1.4E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs876657410
rs876657410
FBN1
1.000 15 48412613 frameshift variant GCCCCGTT/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs1555393516
rs1555393516
FBN1
0.925 0.040 15 48411101 frameshift variant -/G delins
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.700 0
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: rs1555393856
rs1555393856
FBN1
0.925 0.040 15 48415631 stop gained A/T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.700 0