FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1566904526
rs1566904526 		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 		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 		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 		1.000 15 48463219 missense variant T/C snv
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.700 0
dbSNP: rs398122831
rs398122831 		1.000 15 48412639 frameshift variant TT/- del
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs398122832
rs398122832 		1.000 15 48412620 frameshift variant TTGGGGTAGCCATTGATCTT/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs794728305
rs794728305 		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 		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 		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 		1.000 15 48412613 frameshift variant GCCCCGTT/- delins
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs10519177
rs10519177 		0.925 0.040 15 48464998 intron variant A/G snv 0.35
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.020 0.500 2 2014 2015
dbSNP: rs2118181
rs2118181 		0.851 0.040 15 48623687 intron variant T/C snv 0.23
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.020 0.500 2 2014 2015
dbSNP: rs1036476
rs1036476 		1.000 0.040 15 48622578 intron variant T/C snv 7.5E-02
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1042078
rs1042078 		1.000 0.040 15 48410676 3 prime UTR variant G/A snv 0.64
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10519177
rs10519177 		0.925 0.040 15 48464998 intron variant A/G snv 0.35
CUI: C0729233
Disease: Dissecting aneurysm of the thoracic aorta
Dissecting aneurysm of the thoracic aorta 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11634866
rs11634866 		1.000 0.040 15 48482091 intron variant A/C;G snv
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11635140
rs11635140 		1.000 0.040 15 48490366 intron variant T/A;C snv
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11635140
rs11635140 		1.000 0.040 15 48490366 intron variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1354738
rs1354738 		1.000 0.040 15 48591499 intron variant T/C snv 0.19
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs140605
rs140605 		1.000 0.040 15 48497437 intron variant T/C snv 0.28 0.35
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011