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: rs1554617582
rs1554617582
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0