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: 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: 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: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
Cardiovascular Diseases 0.020 0.500 2 2014 2015
dbSNP: rs10519177
rs10519177
0.925 0.040 15 48464998 intron variant A/G snv 0.35
Dissecting aneurysm of the thoracic aorta
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1052480459
rs1052480459
0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06
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 0
dbSNP: rs1052480459
rs1052480459
0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0016202
Disease: Flatfoot
Flatfoot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0221358
Disease: Long narrow head
Long narrow head
0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518881
rs1057518881
0.827 0.200 15 48513656 missense variant C/A;G;T 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 7 2006 2017
dbSNP: rs1057518881
rs1057518881
0.827 0.200 15 48513656 missense variant C/A;G;T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 7 2006 2017
dbSNP: rs1057518881
rs1057518881
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.700 0