SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12460876
rs12460876
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C1561643
Disease:
Chronic Kidney Diseases 		C 0.800 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs79987078
rs79987078
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		A 0.800 CausalMutation CLINVAR Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. 28812535 2017
dbSNP: rs79987078
rs79987078
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		A 0.800 CausalMutation CLINVAR Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. 28717662 2017
dbSNP: rs121908480
rs121908480
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 CausalMutation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721 2015
dbSNP: rs121908480
rs121908480
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 CausalMutation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309 2015
dbSNP: rs140873167
rs140873167
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		A 0.800 CausalMutation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309 2015
dbSNP: rs140873167
rs140873167
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		A 0.800 CausalMutation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721 2015
dbSNP: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 CausalMutation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309 2015
dbSNP: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 GeneticVariation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721 2015
dbSNP: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 GeneticVariation CLINVAR The genetic diversity of cystinuria in a UK population of patients. 25109415 2015
dbSNP: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 GeneticVariation CLINVAR Clinical and genetic analysis of patients with cystinuria in the United Kingdom. 25964309 2015
dbSNP: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 CausalMutation CLINVAR Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. 25296721 2015
dbSNP: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs121908480
rs121908480
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs121908482
rs121908482
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs121908484
rs121908484
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs121908485
rs121908485
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs121908486
rs121908486
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs121908487
rs121908487
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs12460876
rs12460876
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.800 GeneticVariation GWASDB Genome-wide association and functional follow-up reveals new loci for kidney function. 22479191 2012
dbSNP: rs140873167
rs140873167
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. 21255007 2012
dbSNP: rs140873167
rs140873167
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Cystinuria. 21863055 2012
dbSNP: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 CausalMutation CLINVAR Cystinuria: an inborn cause of urolithiasis. 22480232 2012
dbSNP: rs79987078
rs79987078
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		A 0.800 CausalMutation CLINVAR Cystinuria: an inborn cause of urolithiasis. 22480232 2012