Source: BEFREE

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: rs45517234
rs45517234
TSC2
0.925 0.160 16 2074251 stop gained C/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs45517234
rs45517234
TSC2
0.925 0.160 16 2074251 stop gained C/T snv
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.010 1.000 1 2017 2017