Disease: Leber plus disease ×
Source: ALL
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: rs1555830705
rs1555830705 		1.000 0.160 20 13788615 missense variant G/A snv
CUI: C4304725
Disease: Leber plus disease
Leber plus disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs778575439
rs778575439 		1.000 0.160 20 13817195 frameshift variant -/A delins 4.0E-06 2.1E-05
CUI: C4304725
Disease: Leber plus disease
Leber plus disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.700 0