SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
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: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.020 1.000 2 2010 2019
dbSNP: rs10005233
rs10005233 		1.000 0.040 4 89822180 3 prime UTR variant C/T snv 0.58 0.59
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs356200
rs356200 		0.882 0.160 4 89747463 intron variant T/C snv 0.44
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs356219
rs356219 		0.776 0.240 4 89716450 intron variant G/A snv 0.54
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs356200
rs356200 		0.882 0.160 4 89747463 intron variant T/C snv 0.44
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs356219
rs356219 		0.776 0.240 4 89716450 intron variant G/A snv 0.54
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2007 2013
dbSNP: rs104893878
rs104893878 		0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs356219
rs356219 		0.776 0.240 4 89716450 intron variant G/A snv 0.54
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0679407
Disease: Gastrointestinal dysfunction
Gastrointestinal dysfunction 		Digestive System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs431905511
rs431905511 		0.827 0.080 4 89828154 missense variant C/T snv
CUI: C1850100
Disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2736990
rs2736990 		0.882 0.080 4 89757390 intron variant G/A;T snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		Infections; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.030 1.000 3 2013 2020
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.030 1.000 3 2013 2018
dbSNP: rs104893878
rs104893878 		0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.020 0.500 2 2001 2019
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs104893878
rs104893878 		0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 < 0.001 1 2019 2019