rs45517234, TSC2

N. diseases: 2
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.
Keratoconus
CUI: C0022578
Disease: Keratoconus
83 0.925 0.160 16 2074251 stop gained C/T snv 0.010 1.000 1 2017 2017
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.925 0.160 16 2074251 stop gained C/T snv 0.010 1.000 1 2017 2017