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: 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: rs1018148
rs1018148 		15 48610929 intron variant A/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
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: 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: rs1060501029
rs1060501029 		0.925 0.160 15 48446909 intron variant T/C snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060501029
rs1060501029 		0.925 0.160 15 48446909 intron 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 1 2016 2016
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: rs11856553
rs11856553 		15 48488010 intron variant G/A snv 4.3E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12916536
rs12916536 		1.000 0.160 15 48414374 intron variant A/G;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
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
dbSNP: rs1566915335
rs1566915335 		1.000 0.160 15 48510183 intron variant T/C snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1678981
rs1678981 		15 48607900 intron variant C/T snv 7.7E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs1678983
rs1678983 		1.000 0.040 15 48638448 intron variant T/C snv 0.24
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs16960901
rs16960901 		1.000 0.040 15 48413009 intron variant T/C snv 0.65
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs16961065
rs16961065 		1.000 0.040 15 48514342 intron variant C/T snv 0.16
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17361868
rs17361868 		15 48504949 intron variant C/T snv 4.7E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014