OXTR, oxytocin receptor, 5021

N. diseases: 144; N. variants: 19
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: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.030 1.000 3 2015 2019
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs73132848
rs73132848 		0.882 0.080 3 8764738 intron variant G/A snv 9.3E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2016 2016
dbSNP: rs73132848
rs73132848 		0.882 0.080 3 8764738 intron variant G/A snv 9.3E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2016 2016
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs13316193
rs13316193 		0.882 0.040 3 8761057 intron variant T/C snv 0.45
CUI: C0002020
Disease: Alexithymia
Alexithymia 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2015 2015
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0002020
Disease: Alexithymia
Alexithymia 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2015 2015
dbSNP: rs2268490
rs2268490 		1.000 0.040 3 8755399 intron variant C/T snv 0.18
CUI: C0002020
Disease: Alexithymia
Alexithymia 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2015 2015
dbSNP: rs237885
rs237885 		0.925 0.080 3 8753857 intron variant T/G snv 0.53
CUI: C0002020
Disease: Alexithymia
Alexithymia 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2015 2015
dbSNP: rs237887
rs237887 		1.000 0.040 3 8755356 intron variant G/A;C snv
CUI: C0002020
Disease: Alexithymia
Alexithymia 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2015 2015
dbSNP: rs4686301
rs4686301 		1.000 0.040 3 8756900 intron variant C/T snv 0.27
CUI: C0002020
Disease: Alexithymia
Alexithymia 		Behavior and Behavior Mechanisms 0.010 < 0.001 1 2015 2015
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0002020
Disease: Alexithymia
Alexithymia 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0003123
Disease: Anorexia
Anorexia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0003123
Disease: Anorexia
Anorexia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.020 1.000 2 2018 2019
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1042778
rs1042778 		0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv
CUI: C0233523
Disease: Antisocial behavior
Antisocial behavior 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs4564970
rs4564970 		3 8768722 intron variant G/A;C snv
CUI: C0233523
Disease: Antisocial behavior
Antisocial behavior 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0233523
Disease: Antisocial behavior
Antisocial behavior 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.020 1.000 2 2011 2012
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.020 1.000 2 2016 2017
dbSNP: rs2268498
rs2268498 		0.827 0.080 3 8770725 intron variant T/C snv 0.41
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2017 2017