TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3804139
rs3804139
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs11915082
rs11915082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs9859260
rs9859260
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs863225436
rs863225436
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4225219
Disease:
IMMUNODEFICIENCY 46 		0.800 GeneticVariation UNIPROT A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016
dbSNP: rs3804139
rs3804139
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.800 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs11915082
rs11915082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		A 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs11915082
rs11915082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		A 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs9859260
rs9859260
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		C 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs9859260
rs9859260
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		C 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs863225436
rs863225436
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4225219
Disease:
IMMUNODEFICIENCY 46 		G 0.800 CausalMutation CLINVAR
dbSNP: rs11715524
rs11715524
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0741260
Disease:
Adult onset asthma 		A 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs11715524
rs11715524
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0035242
Disease:
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11715524
rs11715524
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0004096
Disease:
Asthma 		A 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs41300435
rs41300435
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs41300435
rs41300435
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4927858
rs4927858
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs6791763
rs6791763
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs113635136
rs113635136
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		CA 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs113635136
rs113635136
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0427460
Disease:
Red cell distribution width determination 		CA 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs113635136
rs113635136
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		CA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3789135
rs3789135
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs55649226
rs55649226
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7619708
rs7619708
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0427460
Disease:
Red cell distribution width determination 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7619708
rs7619708
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11185506
rs11185506
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012