rs1566913974, FBN1

N. diseases: 8
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.
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0