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: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1718119
rs1718119 		0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs208294
rs208294 		0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 < 0.001 1 2011 2011
dbSNP: rs208294
rs208294 		0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 < 0.001 1 2011 2011
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: rs2230911
rs2230911 		0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs2230912
rs2230912 		0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		Mental Disorders 0.010 < 0.001 1 2009 2009
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: rs3751143
rs3751143 		0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2013 2013
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
dbSNP: rs796590326
rs796590326 		0.851 0.200 12 121162449 missense variant GT/AC mnv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 < 0.001 1 2011 2011
dbSNP: rs796590326
rs796590326 		0.851 0.200 12 121162449 missense variant GT/AC mnv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 < 0.001 1 2011 2011
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: 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: 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: 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: 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