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
636 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.900 0.969 198 2005 2018
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
29 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.810 1.000 54 1993 2017
Genetic Diseases, Inborn
CUI: C0950123
Disease: Genetic Diseases, Inborn
827 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.700 8 2005 2017
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
64 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.100 0.938 16 2005 2016
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
33 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.090 1.000 9 2006 2015
Parkinson Disease, Familial, Type 1
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
18 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.080 1.000 8 2006 2016
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
121 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.040 1.000 4 2010 2018
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
6 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.030 1.000 3 2012 2015
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
9 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.030 1.000 3 2011 2014
Sense of smell impaired
CUI: C2364082
Disease: Sense of smell impaired
2 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.030 1.000 3 2008 2015
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
16 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2007 2013
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
7 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2007 2010
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
23 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 0.500 2 2012 2014
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
29 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 0.500 2 2010 2016
Bradykinesia
CUI: C0233565
Disease: Bradykinesia
4 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2010 2015
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
41 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2006 2014
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
59 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2012 2014
Unspecified visual loss
CUI: C3665346
Disease: Unspecified visual loss
6 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2014 2015
Autosomal Dominant Parkinsonism
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
2 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2005 2007
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
46 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.010 1.000 1 2015 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
1839 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.010 1.000 1 2015 2015
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
12 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.010 1.000 1 2007 2007
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
28 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.010 1.000 1 2009 2009
Autosomal dominant late onset Parkinson disease
5 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.010 1.000 1 2015 2015
Tremor
CUI: C0040822
Disease: Tremor
27 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.010 1.000 1 2007 2007