CTNNA3, catenin alpha 3, 29119

N. diseases: 73; N. variants: 33
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: rs587777135
rs587777135 		0.925 0.080 10 65966714 inframe deletion CAA/- delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs587777135
rs587777135 		0.925 0.080 10 65966714 inframe deletion CAA/- delins
CUI: C3810138
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 		0.700 0
dbSNP: rs4746675
rs4746675 		1.000 0.040 10 67192300 intron variant C/A snv 0.37
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs10823051
rs10823051 		1.000 0.080 10 67504839 intron variant G/C snv 0.13
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4548513
rs4548513 		0.925 0.080 10 66280567 missense variant C/G;T snv 0.40
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2007 2007
dbSNP: rs4548513
rs4548513 		0.925 0.080 10 66280567 missense variant C/G;T snv 0.40
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs2306402
rs2306402 		1.000 0.080 10 67175727 intron variant C/T snv 0.38
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs10997477
rs10997477 		1.000 0.080 10 67000961 intron variant C/T snv 0.31
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2012 2014
dbSNP: rs16923760
rs16923760 		1.000 0.080 10 66920370 intron variant T/C snv 0.12
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2012 2014
dbSNP: rs1925608
rs1925608 		1.000 0.080 10 66990654 intron variant A/C snv 0.49
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2012 2014
dbSNP: rs1925609
rs1925609 		1.000 0.080 10 66995149 intron variant T/C snv 0.51
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2012 2014
dbSNP: rs7082306
rs7082306 		1.000 0.080 10 66990997 intron variant G/A snv 0.11
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2441727
rs2441727 		10 66465128 intron variant A/G snv 0.21
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs587777134
rs587777134 		1.000 10 67606868 missense variant A/T snv
CUI: C3810138
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 		0.800 1.000 1 2013 2013
dbSNP: rs72791417
rs72791417 		1.000 0.080 10 65983896 intron variant A/T snv 0.11
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs774104442
rs774104442 		1.000 0.040 10 67607015 missense variant G/A snv 4.0E-06
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs7902091
rs7902091 		1.000 0.040 10 66838534 intron variant C/A snv 0.29
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.710 1.000 1 2014 2014
dbSNP: rs7902091
rs7902091 		1.000 0.040 10 66838534 intron variant C/A snv 0.29
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		Infections 0.710 1.000 1 2014 2014
dbSNP: rs12356475
rs12356475 		1.000 0.080 10 66001962 intron variant T/C snv 0.15
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1393142163
rs1393142163 		10 67521867 missense variant T/C snv
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1393142163
rs1393142163 		10 67521867 missense variant T/C snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12764057
rs12764057 		1.000 0.040 10 67085957 intron variant T/G snv 0.35
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.720 0.667 3 2016 2018
dbSNP: rs10997691
rs10997691 		1.000 0.080 10 67521827 intron variant A/C snv 0.16 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs7070570
rs7070570 		1.000 0.080 10 66104846 intron variant A/G snv 0.26
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs10822974
rs10822974 		1.000 0.040 10 67090661 intron variant A/G;T snv
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.020 0.500 2 2017 2018