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: rs78595509
rs78595509 		12 121157650 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.090 0.889 9 2009 2019
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.070 1.000 7 2008 2019
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.070 0.714 7 2006 2018
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.070 1.000 7 2008 2019
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.070 1.000 7 2008 2019
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.060 1.000 6 2006 2019
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.040 0.500 4 2009 2011
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2017 2019
dbSNP: rs1718125
rs1718125 		0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2014 2019
dbSNP: rs208294
rs208294 		0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.020 1.000 2 2011 2012
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.020 1.000 2 2009 2013
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.020 1.000 2 2009 2013
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.020 1.000 2 2008 2019
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: rs3751143
rs3751143 		0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2013 2019
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: rs7958311
rs7958311 		0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2012 2018
dbSNP: rs1217035505
rs1217035505 		1.000 0.080 12 121184674 missense variant G/A snv
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1240281917
rs1240281917 		1.000 0.080 12 121133063 stop gained G/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1621388
rs1621388 		1.000 0.040 12 121184760 synonymous variant G/A;C snv 0.34; 1.3E-05
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
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: rs1653624
rs1653624 		0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1653625
rs1653625 		12 121185082 3 prime UTR variant C/A;G snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 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: C1719494
Disease: PERIODONTITIS, LOCALIZED AGGRESSIVE
PERIODONTITIS, LOCALIZED AGGRESSIVE 		Stomatognathic Diseases 0.010 1.000 1 2020 2020