TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1050153
rs1050153 		0.925 0.120 3 196049444 3 prime UTR variant G/A snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1050153
rs1050153 		0.925 0.120 3 196049444 3 prime UTR variant G/A snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11185506
rs11185506 		3 196070705 intron variant G/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11185506
rs11185506 		3 196070705 intron variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs113635136
rs113635136 		3 196075973 intron variant AA/-;A;AAA;AAAA delins
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs113635136
rs113635136 		3 196075973 intron variant AA/-;A;AAA;AAAA delins
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs113635136
rs113635136 		3 196075973 intron variant AA/-;A;AAA;AAAA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs11715524
rs11715524 		0.925 0.080 3 196035621 intron variant G/A snv 0.54
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
dbSNP: rs11715524
rs11715524 		0.925 0.080 3 196035621 intron variant G/A snv 0.54
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11715524
rs11715524 		0.925 0.080 3 196035621 intron variant G/A snv 0.54
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11915082
rs11915082 		3 196082268 upstream gene variant G/A snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs11915082
rs11915082 		3 196082268 upstream gene variant G/A snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1259653415
rs1259653415 		1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1259653415
rs1259653415 		1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1259653415
rs1259653415 		1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs13072608
rs13072608 		3 196073396 intron variant C/T snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs13072608
rs13072608 		3 196073396 intron variant C/T snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1341988492
rs1341988492 		1.000 3 196065442 splice donor variant C/A snv
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 0
dbSNP: rs146556082
rs146556082 		1.000 0.040 3 196064339 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1468034466
rs1468034466 		0.851 0.120 3 196074028 synonymous variant T/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2013 2015
dbSNP: rs1468034466
rs1468034466 		0.851 0.120 3 196074028 synonymous variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1468034466
rs1468034466 		0.851 0.120 3 196074028 synonymous variant T/C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1468034466
rs1468034466 		0.851 0.120 3 196074028 synonymous variant T/C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2284889
rs2284889 		3 196061376 intron variant G/A snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2284889
rs2284889 		3 196061376 intron variant G/A snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009