Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912891
rs121912891
COL2A1
0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.820 1.000 0 2007 2010
dbSNP: rs121912891
rs121912891
COL2A1
0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.800 1.000 0 2005 2011