rs1060503498, FBN2

N. diseases: 1
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.
Congenital contractural arachnodactyly
CUI: C0220668
Disease: Congenital contractural arachnodactyly
48 1.000 0.080 5 128332911 splice donor variant C/T snv 0.700 0