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: rs9332377
rs9332377 		0.882 0.120 22 19968169 intron variant C/A;T snv
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1034565
rs1034565 		22 19996688 intron variant C/A;G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs165815
rs165815 		0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs165815
rs165815 		0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs165815
rs165815 		0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs756653
rs756653 		22 19989322 intron variant G/A snv 0.25
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs758374
rs758374 		22 19984029 intron variant T/C snv 0.27
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs758374
rs758374 		22 19984029 intron variant T/C snv 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs117222687
rs117222687 		22 19968491 intron variant G/C snv 3.8E-02 4.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs117222687
rs117222687 		22 19968491 intron variant G/C snv 3.8E-02 4.1E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		0.010 1.000 1 2018 2018
dbSNP: rs165655
rs165655 		1.000 0.040 22 19970240 3 prime UTR variant G/A snv 0.56
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2238787
rs2238787 		22 19988883 intron variant G/A snv 0.25
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs2240715
rs2240715 		22 19973083 intron variant G/C snv 0.39 0.44
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs71313931
rs71313931 		22 19972661 intron variant C/G snv 0.23
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.700 1.000 1 2018 2018
dbSNP: rs2012714
rs2012714 		22 19990124 intron variant C/T snv 0.34
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2018
dbSNP: rs165599
rs165599 		0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
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: rs9332377
rs9332377 		0.882 0.120 22 19968169 intron variant C/A;T snv
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1034564
rs1034564 		22 19996490 intron variant C/T snv 0.24
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs144191434
rs144191434 		1.000 0.080 22 20016577 intron variant G/A snv 3.2E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs2073748
rs2073748 		22 19981448 missense variant G/A snv 0.38 0.36
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2238783
rs2238783 		22 19984929 intron variant C/G snv 0.42
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs2238783
rs2238783 		22 19984929 intron variant C/G snv 0.42
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2238783
rs2238783 		22 19984929 intron variant C/G snv 0.42
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016