Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.732 0.160 4 89835580 missense variant C/G snv 0.100 0.957 70 1998 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.732 0.160 4 89835580 missense variant C/G snv 0.080 1.000 8 2000 2019
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
5 0.732 0.160 4 89835580 missense variant C/G snv 0.800 1.000 7 1997 2015
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.732 0.160 4 89835580 missense variant C/G snv 0.060 1.000 6 2003 2018
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.732 0.160 4 89835580 missense variant C/G snv 0.060 1.000 6 2003 2018
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.732 0.160 4 89835580 missense variant C/G snv 0.060 1.000 6 2003 2018
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
32 0.732 0.160 4 89835580 missense variant C/G snv 0.060 1.000 6 2001 2019
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.732 0.160 4 89835580 missense variant C/G snv 0.030 1.000 3 2000 2004
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
27 0.732 0.160 4 89835580 missense variant C/G snv 0.030 1.000 3 1999 2006
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.732 0.160 4 89835580 missense variant C/G snv 0.020 0.500 2 2001 2019
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2002 2003
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2001 2019
Tremor
CUI: C0040822
Disease: Tremor
52 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2003 2004
Brain Diseases
CUI: C0006111
Disease: Brain Diseases
10 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2018 2018
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1 2019 2019
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2007 2007
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2011 2011
Lewy Body Variant of Alzheimer Disease
2 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2000 2000
Motor Disorders
CUI: C0221163
Disease: Motor Disorders
2 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2003 2003
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2017 2017
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2003 2003