rs45517308, TSC2

N. diseases: 2
Source: CURATED ×
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
CUI: C0041341
Disease: Tuberous Sclerosis
20 0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 4 2001 2017
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
250 0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 2 2001 2011