rs45517395, TSC2

N. diseases: 4
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 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 1.000 6 2007 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2010 2015
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
27 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 0
Lymphangioleiomyomatosis
CUI: C0751674
Disease: Lymphangioleiomyomatosis
17 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 0