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: 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: rs59190448
rs59190448 		3 8761315 intron variant G/A snv 0.12
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1042778
rs1042778 		0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.020 1.000 2 2018 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: 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: 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: 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: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 < 0.001 1 2017 2017
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: 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: 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: rs2268490
rs2268490 		1.000 0.040 3 8755399 intron variant C/T snv 0.18
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2268493
rs2268493 		0.882 0.040 3 8759154 intron variant T/C snv 0.25
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2268493
rs2268493 		0.882 0.040 3 8759154 intron variant T/C snv 0.25
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2268493
rs2268493 		0.882 0.040 3 8759154 intron variant T/C snv 0.25
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
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: rs237887
rs237887 		1.000 0.040 3 8755356 intron variant G/A;C snv
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
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: rs237889
rs237889 		0.925 0.040 3 8760797 intron variant T/C snv 0.71
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs237902
rs237902 		0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
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: rs237902
rs237902 		0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs35062132
rs35062132 		1.000 0.040 3 8753021 missense variant G/A;C snv 1.6E-05; 3.4E-04
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 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