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: rs1566913670
rs1566913670 		0.925 0.160 15 48503786 splice donor 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 2000 2020
dbSNP: rs1566896114
rs1566896114 		1.000 0.160 15 48437071 missense 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 2 2019 2020
dbSNP: rs1555404803
rs1555404803 		1.000 0.160 15 48596318 missense variant 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 2020 2020
dbSNP: rs770290542
rs770290542 		1.000 0.040 15 48495187 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2020 2020
dbSNP: rs137854480
rs137854480 		0.742 0.200 15 48537629 missense variant 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 0.800 1.000 37 1993 2019
dbSNP: rs727503054
rs727503054 		0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1999 2019
dbSNP: rs794728162
rs794728162 		0.925 0.160 15 48537707 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2004 2019
dbSNP: rs397515819
rs397515819 		0.925 0.160 15 48463241 splice acceptor variant C/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 5 2007 2019
dbSNP: rs397515784
rs397515784 		0.925 0.160 15 48489921 stop gained G/C;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 3 2014 2019
dbSNP: rs1156984408
rs1156984408 		1.000 15 48481682 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2014 2019
dbSNP: rs137854485
rs137854485 		0.925 0.160 15 48515402 missense variant 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 0.020 1.000 2 2007 2019
dbSNP: rs1555400274
rs1555400274 		0.925 0.160 15 48513566 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 2 2009 2019
dbSNP: rs397515765
rs397515765 		1.000 0.160 15 48497317 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 2 1999 2019
dbSNP: rs794728334
rs794728334 		0.763 0.200 15 48437069 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 0.710 1.000 2 2019 2019
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: 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: rs137854485
rs137854485 		0.925 0.160 15 48515402 missense variant G/A snv
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1555399165
rs1555399165 		1.000 0.160 15 48495243 missense variant 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 1 2019 2019
dbSNP: rs1566891645
rs1566891645 		1.000 0.160 15 48421563 missense variant C/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 1 2019 2019
dbSNP: rs1566891701
rs1566891701 		1.000 15 48421675 missense variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2019 2019
dbSNP: rs1566895225
rs1566895225 		1.000 0.160 15 48434596 frameshift variant -/C 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 2019 2019
dbSNP: rs1566898399
rs1566898399 		1.000 0.160 15 48445388 frameshift variant T/- 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 1 2019 2019
dbSNP: rs1566904011
rs1566904011 		1.000 0.160 15 48465825 frameshift variant C/- 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 2019 2019
dbSNP: rs1566906537
rs1566906537 		1.000 0.160 15 48474579 missense variant A/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: rs1566908956
rs1566908956 		1.000 0.160 15 48485487 missense variant T/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 2019 2019