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: rs13316193
rs13316193 		0.882 0.040 3 8761057 intron variant T/C snv 0.45
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2268494
rs2268494 		1.000 0.040 3 8760360 intron variant T/A snv 6.2E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0424166
Disease: Social Anxiety
Social Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
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: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.030 1.000 3 2005 2012
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: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs237885
rs237885 		0.925 0.080 3 8753857 intron variant T/G snv 0.53
CUI: C0221074
Disease: Depression, Postpartum
Depression, Postpartum 		Female Urogenital Diseases and Pregnancy Complications; Mental Disorders 0.010 < 0.001 1 2013 2013
dbSNP: rs237885
rs237885 		0.925 0.080 3 8753857 intron variant T/G snv 0.53
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs237902
rs237902 		0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		0.010 1.000 1 2014 2014
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs53576
rs53576 		0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0871388
Disease: social stress
social stress 		Behavior and Behavior Mechanisms 0.020 1.000 2 2015 2015
dbSNP: rs1042778
rs1042778 		0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv
CUI: C4531100
Disease: Negative affectivity
Negative affectivity 		0.010 1.000 1 2015 2015
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: rs13316193
rs13316193 		0.882 0.040 3 8761057 intron variant T/C snv 0.45
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2254298
rs2254298 		0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		Male Urogenital Diseases; Mental Disorders 0.010 1.000 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: 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: 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