rs118203434, 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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.120 9 132921367 stop gained G/A snv 0.700 1.000 5 1998 2016
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.925 0.120 9 132921367 stop gained G/A snv 0.700 1.000 5 1998 2017
TUBEROUS SCLEROSIS 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
128 0.925 0.120 9 132921367 stop gained G/A snv 0.700 1.000 3 1998 2017