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: 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: 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
dbSNP: rs80338880
rs80338880 		0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2003
dbSNP: rs80338880
rs80338880 		0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2003
dbSNP: rs80338880
rs80338880 		0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2004
dbSNP: rs80338880
rs80338880 		0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.730 1.000 3 2001 2006
dbSNP: rs80338889
rs80338889 		1.000 0.080 7 100626830 missense variant T/C;G snv
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2001 2003
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: rs7385804
rs7385804 		0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 2 2011 2014
dbSNP: rs7385804
rs7385804 		0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2016 2017
dbSNP: rs80338880
rs80338880 		0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2008
dbSNP: rs9801017
rs9801017 		7 100638579 intron variant G/A snv 0.65
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2017
dbSNP: rs9801017
rs9801017 		7 100638579 intron variant G/A snv 0.65
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2017
dbSNP: rs10247962
rs10247962 		1.000 0.040 7 100622306 intron variant G/A snv 0.88
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10247962
rs10247962 		1.000 0.040 7 100622306 intron variant G/A snv 0.88
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs1338204934
rs1338204934 		1.000 7 100633005 missense variant T/C snv 7.0E-06
CUI: C1141933
Disease: Multi-organ disorder
Multi-organ disorder 		0.010 1.000 1 2010 2010
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 1.000 1 2019 2019