LRAT, lecithin retinol acyltransferase, 9227

N. diseases: 84; N. variants: 7
Disease: Leber Congenital Amaurosis 14 ×
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: rs104893848
rs104893848 		0.925 0.080 4 154744851 missense variant T/A;C snv 5.6E-05
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2001 2007
dbSNP: rs1560870755
rs1560870755 		0.925 0.080 4 154744543 frameshift variant AT/- del
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0