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: rs45517423
rs45517423
PKD1 ; TSC2
1.000 0.120 16 2088569 missense variant C/T snv 1.5E-03 1.5E-03
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2008 2008