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: 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: 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: 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: 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: 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: 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
dbSNP: rs11185506
rs11185506
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
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: rs11915082
rs11915082
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
dbSNP: rs13072608
rs13072608
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs13072608
rs13072608
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
dbSNP: rs2284889
rs2284889
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs2284889
rs2284889
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
dbSNP: rs2284890
rs2284890
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs2284890
rs2284890
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
dbSNP: rs2300774
rs2300774
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
dbSNP: rs2300774
rs2300774
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs2300780
rs2300780
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
dbSNP: rs3326
rs3326
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
dbSNP: rs3326
rs3326
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs3761717
rs3761717
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs3761717
rs3761717
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
dbSNP: rs3804139
rs3804139
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs3817672
rs3817672
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
dbSNP: rs3933
rs3933
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