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: rs121908479
rs121908479
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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: rs121908482
rs121908482
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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: rs121908483
rs121908483
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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: rs121908484
rs121908484
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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: rs121908485
rs121908485
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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: rs121908486
rs121908486
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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: rs121908487
rs121908487
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		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: rs1198613438
rs1198613438
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs1357600282
rs1357600282
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs1395997436
rs1395997436
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs146815072
rs146815072
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs368441237
rs368441237
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs372306844
rs372306844
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs531029519
rs531029519
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs755135545
rs755135545
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs760264924
rs760264924
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs769448665
rs769448665
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs769576205
rs769576205
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs777371504
rs777371504
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		0.700 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: rs7252778
rs7252778
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
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: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 CausalMutation CLINVAR The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. 12234930 2002
dbSNP: rs79389353
rs79389353
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease:
Cystinuria 		T 0.800 GeneticVariation CLINVAR The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit. 12234930 2002
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