SLC3A1, solute carrier family 3 member 1, 6519

N. diseases: 84; N. variants: 54
Disease: Cystinuria type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1424215334
rs1424215334
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0268643
Disease:
Cystinuria type 1 		0.010 GeneticVariation BEFREE Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. 20052367 2010