rs201988564, FBN2

N. diseases: 2
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.
3 beta-Hydroxysteroid dehydrogenase deficiency
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
25 0.925 0.240 5 128464739 missense variant T/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2002 2002
Congenital contractural arachnodactyly
CUI: C0220668
Disease: Congenital contractural arachnodactyly
48 0.925 0.240 5 128464739 missense variant T/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2002 2002