rs1555398673, 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.
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.807 0.200 15 48488433 missense variant A/G snv 0.700 1.000 2 1996 2011
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.807 0.200 15 48488433 missense variant A/G snv 0.700 1.000 2 1996 2011
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.807 0.200 15 48488433 missense variant A/G snv 0.700 0