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: rs137854478
rs137854478
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 1 2017 2017
dbSNP: rs137854465
rs137854465
0.925 0.160 15 48488230 missense variant A/G snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137854472
rs137854472
0.925 0.160 15 48488448 missense variant T/C snv 8.0E-06
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137854473
rs137854473
1.000 0.160 15 48487384 missense variant T/A snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137854481
rs137854481
0.882 0.160 15 48488481 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs137854484
rs137854484
0.925 0.160 15 48488193 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs387906547
rs387906547
1.000 0.160 15 48474652 splice acceptor variant T/A snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs387906548
rs387906548
0.925 0.160 15 48474527 splice donor variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0