rs45507199, TSC2;PKD1

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 2088294 missense variant G/A;C;T snv 0.800 1.000 13 1998 2017
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.925 0.120 16 2088294 missense variant G/A;C;T snv 0.700 1.000 9 1998 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.925 0.120 16 2088294 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005