Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs45517308
rs45517308
TSC2
0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 4 2001 2017
dbSNP: rs45517308
rs45517308
TSC2
0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 2 2001 2011