P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28360457
rs28360457
0.882 0.200 12 121175426 missense variant G/A snv 8.6E-03 1.1E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1653624
rs1653624
0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2230912
rs2230912
0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0029453
Disease: Osteopenia
Osteopenia
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2012 2012