SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
Disease: Cystinuria type 1 ×
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: rs121908479
rs121908479 		0.925 0.120 19 32862557 missense variant C/T snv 4.0E-06
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2000 2000