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: 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: rs53576
rs53576
0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.020 1.000 2 2005 2019
dbSNP: rs2254298
rs2254298
0.701 0.200 3 8760542 intron variant G/A snv 0.16
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.030 1.000 3 2008 2019
dbSNP: rs237889
rs237889
0.925 0.040 3 8760797 intron variant T/C snv 0.71
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.020 1.000 2 2008 2016
dbSNP: rs237897
rs237897
1.000 0.040 3 8766599 intron variant A/C;G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.020 1.000 2 2008 2016
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
Attention deficit hyperactivity disorder
Mental Disorders 0.030 0.667 3 2010 2017
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: 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: 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: rs53576
rs53576
0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological
Behavior and Behavior Mechanisms 0.020 1.000 2 2012 2018
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: rs53576
rs53576
0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.030 1.000 3 2013 2018
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: C0011581
Disease: Depressive disorder
Depressive disorder
Mental Disorders 0.090 0.889 9 2014 2019
dbSNP: rs53576
rs53576
0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0344315
Disease: Depressed mood
Depressed mood
Behavior and Behavior Mechanisms 0.090 0.889 9 2014 2019
dbSNP: rs53576
rs53576
0.641 0.320 3 8762685 intron variant A/G;T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression
Behavior and Behavior Mechanisms 0.090 0.889 9 2014 2019