rs1057518883, FBN1

N. diseases: 7
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.
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
Mitral Valve Insufficiency
CUI: C0026266
Disease: Mitral Valve Insufficiency
11 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
Protrusio acetabuli
CUI: C0409495
Disease: Protrusio acetabuli
2 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0