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: rs137854329
rs137854329
TSC2
1.000 0.120 16 2085238 frameshift variant -/T delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 0