rs45517259, TSC2

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.
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
255 0.925 0.120 16 2076142 missense variant G/A snv 0.800 1.000 27 1996 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.120 16 2076142 missense variant G/A snv 0.700 1.000 8 1999 2015
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.925 0.120 16 2076142 missense variant G/A snv 0.010 1.000 1 2006 2006