rs45517115, TSC2

N. diseases: 1
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 1.000 0.120 16 2055518 stop gained C/T snv 0.700 1.000 1 2002 2002