TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10247962
rs10247962
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10247962
rs10247962
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE Additionally, we observed a suggestive protective association (OR=0.87, 95% CI: 0.74-1.02) between PD and a haplotype composed of the G allele at rs10247962 and the A allele at rs4434553 in transferrin receptor 2 (TFR2; GeneID: 7036). 24121126 2014
dbSNP: rs1051249273
rs1051249273
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0392514
Disease:
Hereditary hemochromatosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1052897
rs1052897
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs1220336558
rs1220336558
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0392514
Disease:
Hereditary hemochromatosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1338204934
rs1338204934
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1141933
Disease:
Multi-organ disorder 		0.010 GeneticVariation BEFREE More than a century later, it was finally recognized as a hereditary, multi-organ disorder associated with a polymorphism that is common among white people: a 845G-->A change in HFE that results in C282Y in the gene product. 20542038 2010
dbSNP: rs139178017
rs139178017
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0427460
Disease:
Red cell distribution width determination 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs139178017
rs139178017
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs141943282
rs141943282
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0268060
Disease:
Juvenile hemochromatosis 		0.010 GeneticVariation BEFREE Concerning HAMP, the deleterious mutation 5'UTR -25G-->A was found once, associated with Juvenile Hemochromatosis. 18762941 2009
dbSNP: rs1426704853
rs1426704853
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0392514
Disease:
Hereditary hemochromatosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1458641771
rs1458641771
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0282193
Disease:
Iron Overload 		0.010 GeneticVariation BEFREE These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease. 24644245 2014
dbSNP: rs1458641771
rs1458641771
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1853733
Disease:
HEMOCHROMATOSIS, TYPE 4 		0.010 GeneticVariation BEFREE These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease. 24644245 2014
dbSNP: rs1562838535
rs1562838535
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0392514
Disease:
Hereditary hemochromatosis 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0240379
Disease:
Open mouth (finding) 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1838114
Disease:
Generalized limb muscle atrophy 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0344482
Disease:
Hypoplasia of corpus callosum 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1853743
Disease:
Muscular hypotonia of the trunk 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0240543
Disease:
Bulbous nose 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0038379
Disease:
Strabismus 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4022738
Disease:
Neurodevelopmental delay 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1840379
Disease:
Cerebellar vermis hypoplasia 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0751093
Disease:
Dystonia, Limb 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4022748
Disease:
Focal T2 hyperintense brainstem lesion 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0221354
Disease:
Frontal bossing 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019