AVPR1A, arginine vasopressin receptor 1A, 552

N. diseases: 51; N. variants: 9
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: rs10877969
rs10877969 		0.882 0.120 12 63153459 intron variant T/C snv 0.26
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2011 2019
dbSNP: rs11174811
rs11174811 		1.000 12 63146696 3 prime UTR variant C/A snv 0.12
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 0.667 3 2011 2019
dbSNP: rs1042615
rs1042615 		1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1042615
rs1042615 		1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10747983
rs10747983 		1.000 0.040 12 63144678 3 prime UTR variant G/A snv 0.29
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10747983
rs10747983 		1.000 0.040 12 63144678 3 prime UTR variant G/A snv 0.29
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10784339
rs10784339 		12 63144866 3 prime UTR variant G/A;C;T snv
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs10877969
rs10877969 		0.882 0.120 12 63153459 intron variant T/C snv 0.26
CUI: C0184567
Disease: Acute onset pain
Acute onset pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs10877969
rs10877969 		0.882 0.120 12 63153459 intron variant T/C snv 0.26
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10877969
rs10877969 		0.882 0.120 12 63153459 intron variant T/C snv 0.26
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs10877969
rs10877969 		0.882 0.120 12 63153459 intron variant T/C snv 0.26
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs10877969
rs10877969 		0.882 0.120 12 63153459 intron variant T/C snv 0.26
CUI: C0150055
Disease: Chronic pain
Chronic pain 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2019 2019
dbSNP: rs11174811
rs11174811 		1.000 12 63146696 3 prime UTR variant C/A snv 0.12
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		0.010 1.000 1 2011 2011
dbSNP: rs3759292
rs3759292 		1.000 0.040 12 63153533 intron variant A/G snv 2.4E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs3803107
rs3803107 		12 63147054 3 prime UTR variant G/A snv 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7294536
rs7294536 		0.925 0.040 12 63154312 upstream gene variant T/C snv 0.26
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs7294536
rs7294536 		0.925 0.040 12 63154312 upstream gene variant T/C snv 0.26
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs7308855
rs7308855 		0.925 0.080 12 63154276 upstream gene variant C/T snv 8.5E-02
CUI: C3850141
Disease: Acute-On-Chronic Liver Failure
Acute-On-Chronic Liver Failure 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7308855
rs7308855 		0.925 0.080 12 63154276 upstream gene variant C/T snv 8.5E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7308855
rs7308855 		0.925 0.080 12 63154276 upstream gene variant C/T snv 8.5E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2009 2009