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: rs1407030489
rs1407030489
1.000 0.080 14 74552981 missense variant T/C snv 4.0E-06
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019