rs1057518973, FBN1

N. diseases: 3
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.
Dissection of aorta
CUI: C0340643
Disease: Dissection of aorta
16 0.925 0.120 15 48596343 missense variant A/C;G snv 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.925 0.120 15 48596343 missense variant A/C;G snv 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.925 0.120 15 48596343 missense variant A/C;G snv 0.700 0