rs121912891, COL2A1

N. diseases: 5
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.
Legg-Calve-Perthes Disease
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
9 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.820 1.000 2 2007 2010
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
6 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.800 1.000 2 2005 2011
Avascular Necrosis of Femur Head
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
20 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.020 1.000 2 2010 2018
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
121 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.020 1.000 2 2008 2010
Avascular necrosis of bone
CUI: C0027543
Disease: Avascular necrosis of bone
5 0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008