rs45514095, TSC2

N. diseases: 2
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 16 2085323 splice donor variant G/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.160 16 2085323 splice donor variant G/A snv 0.700 0