rs118203707, TSC1

N. diseases: 4
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.
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
128 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 1.000 3 1998 1999
Cortical tubers
CUI: C1968959
Disease: Cortical tubers
4 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 0
Multiple renal cysts
CUI: C0431718
Disease: Multiple renal cysts
4 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 0