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: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0035851
Disease: Root Resorption
Root Resorption 		Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C1963916
Disease: Diabetic peripheral neuropathic pain
Diabetic peripheral neuropathic pain 		0.010 1.000 1 2014 2014
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2017 2017
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0008513
Disease: Chorioretinitis
Chorioretinitis 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1718125
rs1718125 		0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1718125
rs1718125 		0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs1718125
rs1718125 		0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1718125
rs1718125 		0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1718125
rs1718125 		0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs201059543
rs201059543 		12 121184366 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs201059543
rs201059543 		12 121184366 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs208290
rs208290 		1.000 0.080 12 121156253 intron variant G/A snv 0.43
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs208294
rs208294 		0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs208294
rs208294 		0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs208294
rs208294 		0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs208294
rs208294 		0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2007 2007