Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. 19782624

2010
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. 16609684

2006
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. 16138908

2005
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077

2005
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283

2002
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. 11748844

2001
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics. 10738006

2000
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. 9186880

1997
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. 7573036

1995
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Mutations in the SLC3A1 transporter gene in cystinuria. 7539209

1995
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Mutations of the basic amino acid transporter gene associated with cystinuria. 7575432

1995
dbSNP: rs778354350
rs778354350
SLC3A1
0.700 GeneticVariation UNIPROT Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. 8054986

1994