SLC3A1, solute carrier family 3 member 1, 6519

N. diseases: 84; N. variants: 54
Disease: Cystinuria ×
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: rs369641941
rs369641941 		0.925 0.120 2 44281423 missense variant C/G;T snv 9.1E-05
CUI: C0010691
Disease: Cystinuria
Cystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 13 1994 2013