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: rs387906623
rs387906623 		0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623 		0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411 		0.925 0.160 15 48432911 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411 		0.925 0.160 15 48432911 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411 		0.925 0.160 15 48432911 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs137854468
rs137854468 		0.851 0.160 15 48487396 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 0.810 1.000 26 1976 2013
dbSNP: rs111401431
rs111401431 		0.763 0.200 15 48468097 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 23 1996 2017
dbSNP: rs137854464
rs137854464 		0.851 0.200 15 48425483 missense variant C/T 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 0.800 1.000 23 1993 2016
dbSNP: rs137854465
rs137854465 		0.925 0.160 15 48488230 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 20 1993 2013
dbSNP: rs137854477
rs137854477 		0.925 0.160 15 48489979 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 20 1993 2013
dbSNP: rs112728248
rs112728248 		0.925 0.160 15 48448812 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 0.800 1.000 18 1973 2017
dbSNP: rs727503057
rs727503057 		0.708 0.280 15 48505106 missense variant G/A 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 1.000 16 1973 2015
dbSNP: rs193922219
rs193922219 		0.763 0.280 15 48446701 splice region variant 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 1.000 13 1995 2014
dbSNP: rs727503057
rs727503057 		0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 13 1973 2015
dbSNP: rs111401431
rs111401431 		0.763 0.200 15 48468097 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 12 2000 2016
dbSNP: rs111929350
rs111929350 		1.000 0.160 15 48452603 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 0.800 1.000 12 1996 2017
dbSNP: rs1555395663
rs1555395663 		0.925 0.160 15 48444648 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 11 1973 2008
dbSNP: rs1555395663
rs1555395663 		0.925 0.160 15 48444648 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 11 1973 2008
dbSNP: rs111588631
rs111588631 		1.000 0.160 15 48428391 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 0.800 1.000 10 1996 2017
dbSNP: rs112660651
rs112660651 		0.925 0.160 15 48610808 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 0.800 1.000 10 1996 2017
dbSNP: rs1555399968
rs1555399968 		0.925 0.160 15 48508660 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 10 1973 2015
dbSNP: rs1555399968
rs1555399968 		0.925 0.160 15 48508660 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 10 1973 2015
dbSNP: rs1566935517
rs1566935517 		0.925 0.160 15 48600195 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 10 1973 2012
dbSNP: rs1566935517
rs1566935517 		0.925 0.160 15 48600195 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 10 1973 2012
dbSNP: rs193922228
rs193922228 		0.763 0.200 15 48430736 missense variant 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 1.000 10 1999 2016