rs200248046, SLC3A1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
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
Ataxia
CUI: C0004134
Disease: Ataxia
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
Cystinuria type 1
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