Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908480
rs121908480
SLC7A9
T 0.800 CausalMutation CLINVAR Thirty unrelated cystinuria patients were analyzed for four of the most common mutations using ARMS-PCR (M467T, T216M) and RFLP-PCR (G105R, R333W) methods. 26123750

2015
dbSNP: rs121908480
rs121908480
SLC7A9
T 0.800 CausalMutation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721

2015
dbSNP: rs121908480
rs121908480
SLC7A9
T 0.800 CausalMutation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309

2015
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055

2012
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 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: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes. 18752446

2008
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. 16609684

2006
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077

2005
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. 16138908

2005
dbSNP: rs121908480
rs121908480
SLC7A9
T 0.800 CausalMutation CLINVAR New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. 15635077

2005
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT Mutation analysis of SLC7A9 in cystinuria patients in Sweden. 12820697

2003
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. 12234283

2002
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT SLC7A9 mutations in all three cystinuria subtypes. 12371955

2002
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 11157794

2001
dbSNP: rs121908480
rs121908480
SLC7A9
T 0.800 CausalMutation CLINVAR Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 11157794

2001
dbSNP: rs121908480
rs121908480
SLC7A9
0.800 GeneticVariation UNIPROT Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. 10471498

1999