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 6, Autosomal Recessive Early-Onset
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
25 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.700 0
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.020 1.000 2 2007 2018
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
32 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.020 1.000 2 2006 2014
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.010 1.000 1 2018 2018
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.010 1.000 1 2008 2008