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: rs1085308004
rs1085308004
0.807 0.240 15 48425420 missense variant A/G 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: rs113422242
rs113422242
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
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: rs113812345
rs113812345
0.790 0.160 15 48513591 stop gained G/A 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: rs113871094
rs113871094
0.683 0.320 15 48465820 stop gained G/A 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: rs1555395001
rs1555395001
0.807 0.200 15 48434600 missense variant A/G 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: rs1555398397
rs1555398397
0.807 0.240 15 48485436 missense variant C/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: rs1555398673
rs1555398673
0.807 0.200 15 48488433 missense variant A/G 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: rs1566911709
rs1566911709
0.742 0.240 15 48495502 frameshift variant T/- delins
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: rs1566913974
rs1566913974
0.807 0.200 15 48505029 missense variant A/C 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: rs397515789
rs397515789
0.776 0.240 15 48488112 splice donor variant C/A;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