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: 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: rs397515866
rs397515866
1.000 0.160 15 48411000 frameshift variant AA/- delins
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: rs397515865
rs397515865
1.000 0.160 15 48411006 missense variant T/G 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 0
dbSNP: rs1060501033
rs1060501033
0.925 0.160 15 48411045 frameshift variant A/- del
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 3 2009 2015
dbSNP: rs1060501033
rs1060501033
0.925 0.160 15 48411045 frameshift variant A/- del
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 3 2009 2015
dbSNP: rs794728323
rs794728323
1.000 0.160 15 48411062 frameshift variant TT/-;T;TTT delins
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: rs1555393508
rs1555393508
1.000 0.160 15 48411070 stop gained C/A;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 0
dbSNP: rs1555393510
rs1555393510
1.000 0.160 15 48411076 stop gained G/A 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 0
dbSNP: rs1064794130
rs1064794130
1.000 0.160 15 48411077 frameshift variant AAGTT/- delins
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: rs587782948
rs587782948
1.000 0.160 15 48411085 stop gained C/A 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 2011 2011
dbSNP: rs1555393516
rs1555393516
0.925 0.040 15 48411101 frameshift variant -/G delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1555393516
rs1555393516
0.925 0.040 15 48411101 frameshift variant -/G delins
CUI: C0002940
Disease: Aneurysm
Aneurysm
Cardiovascular Diseases 0.700 0
dbSNP: rs886038795
rs886038795
0.925 0.160 15 48411118 stop gained G/A 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 3 2009 2015
dbSNP: rs886038795
rs886038795
0.925 0.160 15 48411118 stop gained G/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 3 2009 2015
dbSNP: rs397515864
rs397515864
1.000 0.160 15 48411123 stop gained G/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 0
dbSNP: rs1555393525
rs1555393525
1.000 0.160 15 48411127 frameshift variant A/- del
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: rs727504454
rs727504454
1.000 0.160 15 48411131 inframe deletion TCC/- del
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: rs1555393532
rs1555393532
0.925 0.160 15 48411159 missense variant T/C;G snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1555393532
rs1555393532
0.925 0.160 15 48411159 missense variant T/C;G 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 0
dbSNP: rs1555393538
rs1555393538
1.000 0.160 15 48411189 frameshift variant -/T delins
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: rs193922246
rs193922246
1.000 0.160 15 48411189 inframe deletion TTTTAA/- delins
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: rs869025417
rs869025417
1.000 0.160 15 48411267 missense variant A/G 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 2002 2002
dbSNP: rs1555393551
rs1555393551
0.925 0.160 15 48411271 stop gained C/A 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 3 2009 2015
dbSNP: rs1555393551
rs1555393551
0.925 0.160 15 48411271 stop gained C/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 3 2009 2015
dbSNP: rs1566888689
rs1566888689
0.925 0.160 15 48411277 frameshift variant T/- delins
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 3 2009 2015