ARVCF, ARVCF delta catenin family member, 421

N. diseases: 151; N. variants: 30
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: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0011253
Disease: Delusions
Delusions 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs174697
rs174697 		0.851 0.080 22 19966309 intron variant A/G snv 0.88
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs174697
rs174697 		0.851 0.080 22 19966309 intron variant A/G snv 0.88
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs9332377
rs9332377 		0.882 0.120 22 19968169 intron variant C/A;T snv
CUI: C0438696
Disease: Suicidal
Suicidal 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs9332377
rs9332377 		0.882 0.120 22 19968169 intron variant C/A;T snv
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs80068543
rs80068543 		1.000 0.080 22 19981520 missense variant C/T snv 2.6E-02 2.4E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0002902
Disease: Anencephaly
Anencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.100 0.727 11 2004 2018
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.050 1.000 5 2008 2017
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2011 2012
dbSNP: rs165815
rs165815 		0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 0.500 2 2005 2010
dbSNP: rs165849
rs165849 		1.000 0.040 22 19971146 intron variant G/A snv 0.55
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2009 2009
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2011 2011