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: rs137854461
rs137854461
0.790 0.280 15 48437026 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 0.820 1.000 36 1993 2017
dbSNP: rs137854478
rs137854478
0.851 0.160 15 48488233 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 33 1993 2017
dbSNP: rs137854462
rs137854462
1.000 0.160 15 48510115 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 0.810 1.000 31 1993 2017
dbSNP: rs137854467
rs137854467
0.790 0.280 15 48600217 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 0.810 1.000 31 1993 2017
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: 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: rs140593
rs140593
0.925 0.160 15 48489896 missense 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 0.800 1.000 37 1993 2017
dbSNP: rs140603
rs140603
0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04
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 2017
dbSNP: rs140592
rs140592
0.925 0.160 15 48489947 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 0.800 1.000 35 1993 2017
dbSNP: rs137854460
rs137854460
0.925 0.160 15 48432943 missense 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 0.800 1.000 34 1993 2017
dbSNP: rs363853
rs363853
1.000 0.160 15 48596292 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 34 1993 2017
dbSNP: rs137854471
rs137854471
0.925 0.160 15 48483931 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 33 1993 2017
dbSNP: rs137854457
rs137854457
0.925 0.160 15 48428423 missense 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 0.800 1.000 30 1993 2017
dbSNP: rs137854458
rs137854458
1.000 0.160 15 48483910 missense variant C/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 30 1993 2017
dbSNP: rs137854459
rs137854459
1.000 0.160 15 48463977 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 30 1993 2017
dbSNP: rs137854463
rs137854463
1.000 0.160 15 48497391 missense variant T/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 30 1993 2017
dbSNP: rs137854469
rs137854469
1.000 0.160 15 48485418 missense 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 0.800 1.000 30 1993 2017
dbSNP: rs137854470
rs137854470
1.000 0.160 15 48487425 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 30 1993 2017
dbSNP: rs137854474
rs137854474
1.000 0.160 15 48483863 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 30 1993 2017
dbSNP: rs137854482
rs137854482
1.000 0.160 15 48487389 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 30 1993 2017
dbSNP: rs140599
rs140599
0.925 0.160 15 48487317 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 30 1993 2017
dbSNP: rs363804
rs363804
1.000 0.160 15 48441771 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 30 1993 2017
dbSNP: rs363815
rs363815
1.000 0.160 15 48437370 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 30 1993 2017
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