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: rs1555397194
rs1555397194
0.925 0.160 15 48468409 splice donor variant -/A 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 1 2001 2001
dbSNP: rs1555397194
rs1555397194
0.925 0.160 15 48468409 splice donor variant -/A delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 1 2001 2001
dbSNP: rs1555394138
rs1555394138
1.000 0.160 15 48420692 frameshift variant -/A 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: rs1555394151
rs1555394151
1.000 0.160 15 48420776 frameshift variant -/A 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: rs1555394407
rs1555394407
0.925 0.160 15 48425450 frameshift variant -/A 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: rs1555394407
rs1555394407
0.925 0.160 15 48425450 frameshift variant -/A delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1555394925
rs1555394925
1.000 0.160 15 48432948 frameshift variant -/A 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: rs1555395653
rs1555395653
1.000 0.160 15 48444616 frameshift variant -/A 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: rs1555395670
rs1555395670
1.000 0.160 15 48444658 frameshift variant -/A 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: rs1555395757
rs1555395757
1.000 0.160 15 48445435 frameshift variant -/A 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: rs1555396199
rs1555396199
1.000 0.160 15 48452607 frameshift variant -/A 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: rs1555399160
rs1555399160
1.000 0.160 15 48495213 frameshift variant -/A 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: rs1555399379
rs1555399379
0.925 0.160 15 48497345 frameshift variant -/A 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: rs1555399379
rs1555399379
0.925 0.160 15 48497345 frameshift variant -/A delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1555404800
rs1555404800
1.000 0.160 15 48596289 frameshift variant -/A 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: rs1555405042
rs1555405042
0.925 0.160 15 48600174 frameshift variant -/A delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1555405042
rs1555405042
0.925 0.160 15 48600174 frameshift variant -/A 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: rs1566909483
rs1566909483
0.925 0.160 15 48487342 frameshift variant -/A delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1566909483
rs1566909483
0.925 0.160 15 48487342 frameshift variant -/A 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: rs397515779
rs397515779
1.000 0.160 15 48494240 frameshift variant -/A 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: rs397515867
rs397515867
1.000 0.160 15 48526159 frameshift variant -/A 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: rs794728315
rs794728315
1.000 15 48441718 splice donor variant -/A delins 8.0E-06 1.4E-05
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs794728321
rs794728321
1.000 0.160 15 48412640 frameshift variant -/A 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: rs869025426
rs869025426
1.000 0.160 15 48463947 frameshift variant -/A 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: rs886043709
rs886043709
0.925 0.160 15 48448844 frameshift variant -/AC delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 0