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: rs17016074
rs17016074 		0.851 0.080 4 89726127 3 prime UTR variant G/A snv 4.7E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17016074
rs17016074 		0.851 0.080 4 89726127 3 prime UTR variant G/A snv 4.7E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs17016074
rs17016074 		0.851 0.080 4 89726127 3 prime UTR variant G/A snv 4.7E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs17016074
rs17016074 		0.851 0.080 4 89726127 3 prime UTR variant G/A snv 4.7E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893877
rs104893877 		0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.760 1.000 6 1998 2010
dbSNP: rs104893875
rs104893875 		0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06
CUI: C1720983
Disease: Channelopathies
Channelopathies 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2010 2010
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: 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: 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: rs104893875
rs104893875 		0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs104893875
rs104893875 		0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs104893878
rs104893878 		0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10516845
rs10516845 		1.000 0.040 4 89763127 intron variant A/G;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1372519
rs1372519 		1.000 0.040 4 89836158 5 prime UTR variant A/G snv 0.77
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1372520
rs1372520 		1.000 0.040 4 89836354 intron variant T/C snv 0.78
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs168552
rs168552 		1.000 0.040 4 89721993 intron variant C/T snv 0.80
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2298728
rs2298728 		1.000 0.040 4 89821664 intron variant G/A;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2572323
rs2572323 		1.000 0.040 4 89713401 intron variant A/G snv 0.75
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs356169
rs356169 		1.000 0.040 4 89711617 intron variant G/T snv 0.72
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs356174
rs356174 		1.000 0.040 4 89709750 intron variant G/T snv 0.72
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs356180
rs356180 		1.000 0.040 4 89706976 intron variant A/G snv 0.77
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs356200
rs356200 		0.882 0.160 4 89747463 intron variant T/C snv 0.44
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3775423
rs3775423 		1.000 0.040 4 89736340 intron variant C/T snv 0.24
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3775442
rs3775442 		1.000 0.040 4 89794080 intron variant C/T snv 6.7E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3857053
rs3857053 		1.000 0.040 4 89724523 3 prime UTR variant C/T snv 0.24
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011