rs61746008, 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.
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04 0.030 1.000 3 2004 2016
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
27 0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04 0.010 1 2009 2009
Protrusio acetabuli
CUI: C0409495
Disease: Protrusio acetabuli
2 0.882 0.160 15 48412619 missense variant G/A;C snv 7.3E-04 0.010 1.000 1 2009 2009