VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
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: rs140122268
rs140122268
1.000 0.040 20 25079507 missense variant G/C snv 3.4E-03 2.9E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.010 1.000 1 2007 2007