MYOC, myocilin, 4653

N. diseases: 10; N. variants: 39
Disease: Glaucoma ×
Source: CURATED ×
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: rs74315329
rs74315329 		0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.800 1.000 1 1998 2019
dbSNP: rs879255525
rs879255525 		1.000 0.040 1 171636617 stop gained T/A snv 4.0E-06
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.710 1.000 0 2018 2018