ADORA2A, adenosine A2a receptor, 135

N. diseases: 213; N. variants: 10
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: rs5751876
rs5751876 		0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.070 1.000 7 2007 2019
dbSNP: rs5751876
rs5751876 		0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.050 1.000 5 2008 2016
dbSNP: rs5751876
rs5751876 		0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.040 1.000 4 2008 2013
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.020 1.000 2 2008 2019
dbSNP: rs5751876
rs5751876 		0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2007 2019
dbSNP: rs5751876
rs5751876 		0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		Mental Disorders 0.020 1.000 2 2010 2013
dbSNP: rs2236624
rs2236624 		0.925 0.200 22 24440056 intron variant T/C snv 0.80
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs2236624
rs2236624 		0.925 0.200 22 24440056 intron variant T/C snv 0.80
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2008 2008
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0392156
Disease: Akathisia
Akathisia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0349217
Disease: Depressive episode, unspecified
Depressive episode, unspecified 		Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs2298383
rs2298383 		0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3032740
rs3032740 		22 24439073 intron variant TTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT delins
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 1.000 1 2008 2008
dbSNP: rs35320474
rs35320474 		1.000 0.080 22 24441941 3 prime UTR variant -/T delins
CUI: C0003578
Disease: Apnea
Apnea 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs35320474
rs35320474 		1.000 0.080 22 24441941 3 prime UTR variant -/T delins
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3761422
rs3761422 		1.000 0.040 22 24430704 intron variant T/C snv 0.62
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2010 2010
dbSNP: rs3761422
rs3761422 		1.000 0.040 22 24430704 intron variant T/C snv 0.62
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2010 2010
dbSNP: rs3761422
rs3761422 		1.000 0.040 22 24430704 intron variant T/C snv 0.62
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs3761422
rs3761422 		1.000 0.040 22 24430704 intron variant T/C snv 0.62
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 < 0.001 1 2010 2010