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: 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
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: rs1670140
rs1670140 		0.925 0.040 10 65948601 intron variant T/C;G snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1670140
rs1670140 		0.925 0.040 10 65948601 intron variant T/C;G snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
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: rs4745925
rs4745925 		0.925 0.040 10 67051026 intron variant G/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4745925
rs4745925 		0.925 0.040 10 67051026 intron variant G/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs4746582
rs4746582 		10 66417570 intron variant A/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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: 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: rs7923367
rs7923367 		0.925 0.040 10 67413145 intron variant G/A;C;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7923367
rs7923367 		0.925 0.040 10 67413145 intron variant G/A;C;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: rs558363983
rs558363983 		10 67453432 intron variant A/C;T snv 7.0E-06
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs533451950
rs533451950 		10 67475334 intron variant T/C snv 1.4E-05
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs560625443
rs560625443 		10 67354852 intron variant G/A snv 5.6E-05
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs75495219
rs75495219 		1.000 10 67151138 intron variant A/G snv 6.0E-02
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.700 1.000 1 2019 2019
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: 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: 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: 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: 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