SLC7A7, solute carrier family 7 member 7, 9056

N. diseases: 122; N. variants: 53
Disease: Lysinuric Protein Intolerance ×
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: rs386833817
rs386833817 		1.000 0.080 14 22812899 splice donor variant C/T snv
CUI: C0268647
Disease: Lysinuric Protein Intolerance
Lysinuric Protein Intolerance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0