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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 1.000 13 2000 2018
dbSNP: rs104893878
rs104893878 		0.732 0.160 4 89835580 missense variant C/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.080 1.000 8 2000 2019
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: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		0.030 1.000 3 2018 2020
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.020 1.000 2 2003 2017
dbSNP: rs104893875
rs104893875 		0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 < 0.001 1 2018 2018
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2007 2007
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2008 2008
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2008 2008
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		0.010 1.000 1 2013 2013
dbSNP: rs11931074
rs11931074 		0.851 0.080 4 89718364 intron variant G/A;C;T snv
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		0.010 1.000 1 2019 2019
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: rs2119787
rs2119787 		4 89813577 intron variant A/C;G snv
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms 		0.010 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: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2020 2020
dbSNP: rs431905511
rs431905511 		0.827 0.080 4 89828154 missense variant C/T snv
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		0.010 1.000 1 2013 2013
dbSNP: rs542171324
rs542171324 		0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs894278
rs894278 		0.882 0.080 4 89813384 intron variant T/G snv 0.15
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2017 2017
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: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.030 1.000 3 2013 2020