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 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.700 0
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016