rs28934872, TSC2

N. diseases: 5
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 0.851 0.200 16 2070571 missense variant G/A snv 0.800 1.000 25 1996 2016
Lymphangioleiomyomatosis
CUI: C0751674
Disease: Lymphangioleiomyomatosis
17 0.851 0.200 16 2070571 missense variant G/A snv 0.800 1.000 2 2000 2002
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 16 2070571 missense variant G/A snv 0.700 1.000 5 1998 2013
FOCAL CORTICAL DYSPLASIA OF TAYLOR
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
27 0.851 0.200 16 2070571 missense variant G/A snv 0.700 0
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.851 0.200 16 2070571 missense variant G/A snv 0.010 1.000 1 2019 2019