TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Keratoconus ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118203673
rs118203673 		0.925 0.160 9 132902703 stop gained G/A snv
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2017 2017