P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Disease: Osteoporosis ×
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: rs3751143
rs3751143 		0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.020 1.000 2 2017 2018
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2230911
rs2230911 		0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2393799
rs2393799 		0.882 0.200 12 121132209 upstream gene variant C/A;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs7958311
rs7958311 		0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017