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.
Generalized limb muscle atrophy
CUI: C1838114
Disease: Generalized limb muscle atrophy
2 0.925 0.080 X 103786638 missense variant A/G snv 0.700 0
Spastic gait
CUI: C0231687
Disease: Spastic gait
9 0.925 0.080 X 103786638 missense variant A/G snv 0.700 0
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
13 0.925 0.080 X 103786638 missense variant A/G snv 0.700 0