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.
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
CUI: C3809665
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
4 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.800 1.000 2 2013 2017
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.925 0.040 4 41256996 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017