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: rs1057518881
rs1057518881 		0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518881
rs1057518881 		0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		Eye Diseases 0.700 0
dbSNP: rs1057518881
rs1057518881 		0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		0.700 0
dbSNP: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		Stomatognathic Diseases 0.700 0
dbSNP: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C 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: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518883
rs1057518883 		0.851 0.240 15 48415571 missense variant A/C snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1057518909
rs1057518909 		0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1057518909
rs1057518909 		0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1057518909
rs1057518909 		0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1057518909
rs1057518909 		0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1057518909
rs1057518909 		0.925 0.120 15 48534099 frameshift variant CATT/- delins
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518912
rs1057518912 		1.000 0.160 15 48456643 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: rs1057518973
rs1057518973 		0.925 0.120 15 48596343 missense variant A/C;G snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1057518973
rs1057518973 		0.925 0.120 15 48596343 missense variant A/C;G snv
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518973
rs1057518973 		0.925 0.120 15 48596343 missense variant A/C;G snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 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 0.700 0
dbSNP: rs1057519320
rs1057519320 		0.807 0.160 15 48444574 missense variant G/A snv
CUI: C4025596
Disease: Abnormality of connective tissue
Abnormality of connective tissue 		0.700 0