ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Disease: Hyperopia ×
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: rs137854889
rs137854889 		0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0020490
Disease: Hyperopia
Hyperopia 		Eye Diseases 0.700 0