rs118203427, TSC1

N. diseases: 3
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 0.882 0.200 9 132921418 stop gained G/A snv 0.700 1.000 6 1998 2005
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
27 0.882 0.200 9 132921418 stop gained G/A snv 0.700 0
Lymphangioleiomyomatosis
CUI: C0751674
Disease: Lymphangioleiomyomatosis
17 0.882 0.200 9 132921418 stop gained G/A snv 0.700 0