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: rs771561481
rs771561481
0.925 0.040 20 25078931 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1
Eye Diseases 0.700 0