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: rs406271
rs406271
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: 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: rs454516
rs454516
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: 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: rs4927866
rs4927866
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: rs557527
rs557527
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: rs6583288
rs6583288
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: 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: rs714602
rs714602
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: rs9846149
rs9846149
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: rs9846149
rs9846149
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: rs9858727
rs9858727
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: rs9858727
rs9858727
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: rs9859260
rs9859260
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: rs9859401
rs9859401
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: rs9859401
rs9859401
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: rs1468034466
rs1468034466
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.030 GeneticVariation BEFREE To examine the role of H63D HFE in ALS, we generated a double transgenic mouse line (SOD1/H67D) carrying the H67D HFE (homologue of human H63D) and SOD1(G93A) mutations. 25283820 2014
dbSNP: rs1468034466
rs1468034466
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.030 GeneticVariation BEFREE Dysregulation of iron protein expression in the G93A model of amyotrophic lateral sclerosis. 23178912 2013
dbSNP: rs1468034466
rs1468034466
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.030 GeneticVariation BEFREE Increased anxiety-like behavior and selective learning impairments are concomitant to loss of hippocampal interneurons in the presymptomatic SOD1(G93A) ALS mouse model. 25684566 2015
dbSNP: rs1050153
rs1050153
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0013595
Disease:
Eczema 		0.010 GeneticVariation BEFREE We found significant association of eczema with 11p14 genetic variants in the vicinity of the linkage peak in EGEA (P = 10(-4) for rs1050153 by using the family-based association method, which reached the multiple testing-corrected threshold of 10(-4); P = .003 with logistic regression). 22657408 2012
dbSNP: rs1050153
rs1050153
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0004096
Disease:
Asthma 		0.010 GeneticVariation BEFREE We found significant association of eczema with 11p14 genetic variants in the vicinity of the linkage peak in EGEA (P = 10(-4) for rs1050153 by using the family-based association method, which reached the multiple testing-corrected threshold of 10(-4); P = .003 with logistic regression). 22657408 2012
dbSNP: rs1259653415
rs1259653415
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1292778
Disease:
Chronic myeloproliferative disorder 		0.010 GeneticVariation BEFREE TFR S142G allele frequency was reduced among V617F-negative CMPD patients (34.8%+/-7.6%) compared with controls (47.8%+/-5.4%; P=0.02). 19258483 2009
dbSNP: rs1259653415
rs1259653415
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0596263
Disease:
Carcinogenesis 		0.010 GeneticVariation BEFREE Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies. 19258483 2009
dbSNP: rs1259653415
rs1259653415
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies. 19258483 2009