rs1555395001, 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.
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.807 0.200 15 48434600 missense variant A/G snv 0.700 1.000 6 1973 2007
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.807 0.200 15 48434600 missense variant A/G snv 0.700 1.000 6 1973 2007
Bilateral hallux valgus
CUI: C4313505
Disease: Bilateral hallux valgus
1 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
Malar flattening
CUI: C1858085
Disease: Malar flattening
12 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0