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: rs104893623
rs104893623
0.925 0.120 2 38075219 stop gained C/T snv 7.0E-06
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002