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: rs724159949
rs724159949
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0