SLC7A5, solute carrier family 7 member 5, 8140

N. diseases: 173; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs68149176
rs68149176
Entrez Id: 8140;113218509
Gene Symbol: SLC7A5;MIR11401
SLC7A5;MIR11401
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs68149176
rs68149176
Entrez Id: 8140;113218509
Gene Symbol: SLC7A5;MIR11401
SLC7A5;MIR11401
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs68149176
rs68149176
Entrez Id: 8140;113218509
Gene Symbol: SLC7A5;MIR11401
SLC7A5;MIR11401
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs4240803
rs4240803
Entrez Id: 8140;107987237
Gene Symbol: SLC7A5;LOC107987237
SLC7A5;LOC107987237
CUI: C0026764
Disease:
Multiple Myeloma
0.010 GeneticVariation BEFREE rs4240803 impacted the expression of SLC7A5, thus contributing to the clinical response of MM patients to melphalan therapy. 30591441 2019
dbSNP: rs11865049
rs11865049
Entrez Id: 8140
Gene Symbol: SLC7A5
SLC7A5
CUI: C0730328
Disease:
Central Serous Chorioretinopathy
0.010 GeneticVariation BEFREE In the two-stage GWAS, rs11865049 located at SLC7A5 in chromosome 16q24.2 was identified as a novel disease susceptibility locus for CSC, as evident from the discovery and replication results using meta-analysis (combined P = 9.71 × 10-9, odds ratio = 2.10). 30480742 2018
dbSNP: rs4240803
rs4240803
Entrez Id: 8140;107987237
Gene Symbol: SLC7A5;LOC107987237
SLC7A5;LOC107987237
CUI: C0521585
Disease:
Gastrointestinal mucositis
0.010 GeneticVariation BEFREE Furthermore, we observed the rs4240803 SLC7A5 polymorphism was significantly associated with pharmacokinetic variability, and pharmacokinetics was associated with both mucositis and neutropenia. 28160288 2017
dbSNP: rs4240803
rs4240803
Entrez Id: 8140;107987237
Gene Symbol: SLC7A5;LOC107987237
SLC7A5;LOC107987237
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE Furthermore, we observed the rs4240803 SLC7A5 polymorphism was significantly associated with pharmacokinetic variability, and pharmacokinetics was associated with both mucositis and neutropenia. 28160288 2017
dbSNP: rs4240803
rs4240803
Entrez Id: 8140;107987237
Gene Symbol: SLC7A5;LOC107987237
SLC7A5;LOC107987237
CUI: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE Furthermore, we observed the rs4240803 SLC7A5 polymorphism was significantly associated with pharmacokinetic variability, and pharmacokinetics was associated with both mucositis and neutropenia. 28160288 2017