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: rs752169833
rs752169833 		0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05
CUI: C4225238
Disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT 		0.800 1.000 1 2015 2015
dbSNP: rs864309650
rs864309650 		0.851 0.040 7 56104344 missense variant G/A snv
CUI: C4225238
Disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT 		0.800 1.000 1 2015 2015
dbSNP: rs816411
rs816411 		1.000 0.040 7 56103796 intron variant C/T snv 0.53
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs816411
rs816411 		1.000 0.040 7 56103796 intron variant C/T snv 0.53
CUI: C0523888
Disease: Serine measurement
Serine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs750014782
rs750014782 		1.000 7 56104221 splice region variant C/T snv 2.0E-05
CUI: C4225238
Disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs864309650
rs864309650 		0.851 0.040 7 56104344 missense variant G/A snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.030 1.000 3 2017 2019
dbSNP: rs142444896
rs142444896 		0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.020 1.000 2 2015 2016
dbSNP: rs142444896
rs142444896 		0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 0.500 2 2016 2018
dbSNP: rs10043
rs10043 		1.000 0.040 7 56106422 5 prime UTR variant A/C;T snv 0.80; 4.0E-06
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1390851365
rs1390851365 		1.000 0.080 7 56102976 missense variant C/A snv 1.2E-05 7.0E-06
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs142444896
rs142444896 		0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs142444896
rs142444896 		0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs142444896
rs142444896 		0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs142444896
rs142444896 		0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs149119842
rs149119842 		0.882 0.120 7 56104288 missense variant T/C snv 2.4E-05 2.8E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs149119842
rs149119842 		0.882 0.120 7 56104288 missense variant T/C snv 2.4E-05 2.8E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs149119842
rs149119842 		0.882 0.120 7 56104288 missense variant T/C snv 2.4E-05 2.8E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs752169833
rs752169833 		0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs752169833
rs752169833 		0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs816411
rs816411 		1.000 0.040 7 56103796 intron variant C/T snv 0.53
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs864309650
rs864309650 		0.851 0.040 7 56104344 missense variant G/A snv
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs864309650
rs864309650 		0.851 0.040 7 56104344 missense variant G/A snv
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		Nervous System Diseases 0.010 1.000 1 2019 2019