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: rs1052480459
rs1052480459
0.925 0.160 15 48437837 stop gained C/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 0
dbSNP: rs1052480459
rs1052480459
0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06
Familial thoracic aortic aneurysm and aortic dissection
0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518809
rs1057518809
0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0016202
Disease: Flatfoot
Flatfoot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0221358
Disease: Long narrow head
Long narrow head
0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A 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: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518812
rs1057518812
0.827 0.240 15 48430742 missense variant T/A snv
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
Cardiovascular Diseases 0.700 0
dbSNP: rs1057518881
rs1057518881
0.827 0.200 15 48513656 missense variant C/A;G;T snv
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.700 0
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