rs1057518930, COL1A1

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.
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0
Increased susceptibility to fractures
CUI: C1390474
Disease: Increased susceptibility to fractures
5 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0