TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
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: rs80338877
rs80338877 		1.000 0.080 7 100641173 frameshift variant -/G delins 7.5E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs564636753
rs564636753 		7 100639580 intron variant A/-;AA;AAA;AAAA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs80338886
rs80338886 		0.882 0.080 7 100628228 missense variant A/C snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs80338886
rs80338886 		0.882 0.080 7 100628228 missense variant A/C snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs80338886
rs80338886 		0.882 0.080 7 100628228 missense variant A/C snv
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs7457868
rs7457868 		7 100629565 intron variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 3 2012 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs4434553
rs4434553 		1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs4434553
rs4434553 		1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs4434553
rs4434553 		1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4434553
rs4434553 		1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2012 2012
dbSNP: rs4434553
rs4434553 		1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs80338879
rs80338879 		0.882 0.080 7 100633515 missense variant A/T snv 8.3E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 4 2001 2003
dbSNP: rs1052897
rs1052897 		7 100643148 3 prime UTR variant A/T snv 0.88
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs80338879
rs80338879 		0.882 0.080 7 100633515 missense variant A/T snv 8.3E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs80338879
rs80338879 		0.882 0.080 7 100633515 missense variant A/T snv 8.3E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs773050231
rs773050231 		1.000 0.080 7 100628299 frameshift variant C/- delins 1.1E-04
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs7385804
rs7385804 		0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 3 2009 2019