Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200483989
rs200483989
SLC3A1
T 0.710 CausalMutation CLINVAR An antenatal hyper-echogenic colon: question. 18704508

2009
dbSNP: rs200483989
rs200483989
SLC3A1
T 0.710 CausalMutation CLINVAR Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients. 16225397

2005
dbSNP: rs200483989
rs200483989
SLC3A1
T 0.710 CausalMutation CLINVAR Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283

2002
dbSNP: rs200483989
rs200483989
SLC3A1
T 0.710 CausalMutation CLINVAR Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria. 9768685

1998
dbSNP: rs200483989
rs200483989
SLC3A1
T 0.710 CausalMutation CLINVAR Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. 9186880

1997
dbSNP: rs200483989
rs200483989
SLC3A1
0.710 GeneticVariation BEFREE In addition, we detected three previously reported SLC3A1 mutations, R270X, 1500 +1/G to T, and M467T, the latter being present in approximately 20% of cystinuria chromosomes examined. 9186880

1997
dbSNP: rs200483989
rs200483989
SLC3A1
T 0.710 CausalMutation CLINVAR Mutations in the SLC3A1 transporter gene in cystinuria. 7539209

1995