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 56, AUTOSOMAL RECESSIVE
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
8 0.882 0.080 4 107945426 missense variant A/T snv 0.800 1.000 1 2012 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0
Nerve Degeneration
CUI: C0027746
Disease: Nerve Degeneration
17 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0