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: 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: 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: rs141943282
rs141943282 		1.000 0.080 7 100633541 synonymous variant C/A;T snv 4.2E-06
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1458641771
rs1458641771 		0.925 0.080 7 100632146 missense variant G/A snv 4.0E-06
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1458641771
rs1458641771 		0.925 0.080 7 100632146 missense variant G/A snv 4.0E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs200249435
rs200249435 		0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 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 2015 2015
dbSNP: rs200249435
rs200249435 		0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-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 0.010 1.000 1 2008 2008
dbSNP: rs200249435
rs200249435 		0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs200249435
rs200249435 		0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs200249435
rs200249435 		0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2008 2008
dbSNP: rs2075674
rs2075674 		1.000 0.040 7 100627408 synonymous variant G/A snv 0.18 0.16
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs34242818
rs34242818 		0.925 0.080 7 100633241 missense variant G/C snv 1.8E-02 4.0E-02
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: rs34242818
rs34242818 		0.925 0.080 7 100633241 missense variant G/C snv 1.8E-02 4.0E-02
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs41303501
rs41303501 		0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03
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 2006 2006
dbSNP: rs41303501
rs41303501 		0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs41303501
rs41303501 		0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
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: rs7385804
rs7385804 		0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs7385804
rs7385804 		0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs7385804
rs7385804 		0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7385804
rs7385804 		0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs768843272
rs768843272 		0.925 0.080 7 100629298 missense variant T/C snv 8.4E-05 7.7E-05
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs768843272
rs768843272 		0.925 0.080 7 100629298 missense variant T/C snv 8.4E-05 7.7E-05
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic 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: 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