rs121908130, PSTPIP1

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.
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
CUI: C1858361
Disease: Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
7 0.882 0.160 15 77031225 missense variant G/A snv 0.830 0.800 5 2002 2015
Autoinflammatory disorder
CUI: C3860213
Disease: Autoinflammatory disorder
4 0.882 0.160 15 77031225 missense variant G/A snv 0.010 1.000 1 2011 2011
Postaxial polydactyly type A
CUI: C3887487
Disease: Postaxial polydactyly type A
4 0.882 0.160 15 77031225 missense variant G/A snv 0.010 1.000 1 2003 2003