Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
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
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.050 1.000 5 2008 2016
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0003467
Disease: Anxiety
Anxiety 		0.040 1.000 4 2008 2013
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		0.020 1.000 2 2010 2013
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		0.020 1.000 2 2007 2019
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0349231
Disease: Phobic anxiety disorder
Phobic anxiety disorder 		0.010 1.000 1 2010 2010
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0001818
Disease: Agoraphobia
Agoraphobia 		0.010 1.000 1 2010 2010
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 1.000 1 2015 2015
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0860602
Disease: Anxious personality
Anxious personality 		0.010 < 0.001 1 2010 2010
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 1.000 1 2011 2011
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C1836438
Disease: Familial neurocardiogenic syncope
Familial neurocardiogenic syncope 		0.010 < 0.001 1 2016 2016
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 < 0.001 1 1998 1998
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0392156
Disease: Akathisia
Akathisia 		0.010 1.000 1 2016 2016
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0039070
Disease: Syncope
Syncope 		0.010 1.000 1 2016 2016
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52
CUI: C0024530
Disease: Malaria
Malaria 		0.010 1.000 1 2015 2015
dbSNP: rs786201031
rs786201031
SPECC1L ; SPECC1L-ADORA2A
0.925 0.280 22 24412690 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.020 1.000 2 2008 2019
dbSNP: rs2236624
rs2236624
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.925 0.200 22 24440056 intron variant T/C snv 0.80
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 1.000 1 2010 2010
dbSNP: rs2236624
rs2236624
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
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 		0.010 1.000 1 2011 2011
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 1.000 1 2008 2008
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0392156
Disease: Akathisia
Akathisia 		0.010 1.000 1 2016 2016
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		0.010 1.000 1 2019 2019
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 1.000 1 2019 2019
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 1.000 1 2019 2019