SNCA, synuclein alpha, 6622

N. diseases: 36; N. variants: 44
Source: CURATED ×
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: rs104893875
rs104893875 		0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.700 1.000 7 1997 2015
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 1.000 7 1997 2015
dbSNP: rs104893878
rs104893878 		0.732 0.160 4 89835580 missense variant C/G snv
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.800 1.000 7 1997 2015
dbSNP: rs201106962
rs201106962 		0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.700 1.000 7 1997 2015
dbSNP: rs1372518
rs1372518 		4 89836143 5 prime UTR variant A/C snv 0.77
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2245801
rs2245801 		4 89836689 non coding transcript exon variant T/C snv 0.79
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2737002
rs2737002 		4 89832029 intron variant A/G snv 0.78
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs431905511
rs431905511 		0.827 0.080 4 89828154 missense variant C/T snv
CUI: C1868595
Disease: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 		0.700 0
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: 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: rs356220
rs356220 		0.925 0.080 4 89720189 intron variant T/A;C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.850 1.000 7 2010 2016
dbSNP: rs2736990
rs2736990 		0.882 0.080 4 89757390 intron variant G/A;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.860 1.000 6 2009 2018
dbSNP: rs11931074
rs11931074 		0.851 0.080 4 89718364 intron variant G/A;C;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.900 1.000 4 2009 2020
dbSNP: rs356219
rs356219 		0.776 0.240 4 89716450 intron variant G/A snv 0.54
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.900 1.000 4 2008 2019
dbSNP: rs356182
rs356182 		0.882 0.080 4 89704960 intron variant G/A snv 0.65
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.740 1.000 3 2014 2018
dbSNP: rs356203
rs356203 		1.000 0.040 4 89744890 intron variant C/T snv 0.54
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.800 1.000 3 2011 2019
dbSNP: rs3775439
rs3775439 		1.000 0.040 4 89788590 intron variant G/A snv 0.25
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.710 1.000 3 2009 2012
dbSNP: rs3857059
rs3857059 		1.000 0.040 4 89754087 intron variant A/G;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.710 1.000 3 2009 2016
dbSNP: rs894278
rs894278 		0.882 0.080 4 89813384 intron variant T/G snv 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.720 1.000 3 2009 2019
dbSNP: rs181489
rs181489 		1.000 0.040 4 89713869 intron variant T/A;C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.710 1.000 2 2011 2015
dbSNP: rs2197120
rs2197120 		1.000 0.040 4 89808451 intron variant A/G snv 0.78
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs2737029
rs2737029 		1.000 0.040 4 89790619 intron variant T/C snv 0.45
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.720 1.000 2 2008 2018
dbSNP: rs356165
rs356165 		0.882 0.080 4 89725735 3 prime UTR variant G/A snv 0.54
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.780 0.900 2 2007 2015
dbSNP: rs356168
rs356168 		1.000 0.040 4 89753280 intron variant G/A snv 0.45
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.710 1.000 2 2010 2017
dbSNP: rs356221
rs356221 		1.000 0.040 4 89721313 intron variant A/T snv 0.44
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.710 1.000 2 2011 2013