rs1566913974, FBN1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
0.700 CausalMutation CLINVAR
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
0.700 CausalMutation CLINVAR
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
0.700 CausalMutation CLINVAR
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
0.700 CausalMutation CLINVAR
Malar flattening
CUI: C1858085
Disease: Malar flattening
0.700 CausalMutation CLINVAR
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
0.700 CausalMutation CLINVAR
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
0.700 CausalMutation CLINVAR