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.
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.925 0.160 X 49075135 splice donor variant C/T snv 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.925 0.160 X 49075135 splice donor variant C/T snv 0.700 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
28 0.925 0.160 X 49075135 splice donor variant C/T snv 0.700 0