rs1555393889, FBN1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dilatation of pulmonary artery, unspecified
CUI: C0428851
Disease: Dilatation of pulmonary artery, unspecified
2 0.851 0.200 15 48415758 missense variant T/A;C snv 0.700 0
Linear atrophy
CUI: C0152459
Disease: Linear atrophy
6 0.851 0.200 15 48415758 missense variant T/A;C snv 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.851 0.200 15 48415758 missense variant T/A;C snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.851 0.200 15 48415758 missense variant T/A;C snv 0.700 0