rs137854117, NTHL1;TSC2

N. diseases: 1
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 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
255 1.000 0.120 16 2048750 splice donor variant AGAG/-;AG delins 0.700 0