rs118203478, TSC1

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 1 (disorder)
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
128 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 1.000 4 1999 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 1.000 3 1999 2013
Cortical Dysplasia
CUI: C0431380
Disease: Cortical Dysplasia
6 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0
Renal cortical cysts
CUI: C1969144
Disease: Renal cortical cysts
1 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0
Renal Insufficiency
CUI: C1565489
Disease: Renal Insufficiency
42 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0