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: 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: rs1051249273
rs1051249273 		1.000 0.080 7 100626885 stop gained G/A;T snv 4.8E-05
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: rs1220336558
rs1220336558 		1.000 0.080 7 100627389 stop gained G/A snv 5.9E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: rs139178017
rs139178017 		7 100628224 splice region variant C/T snv 3.1E-03 2.8E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs139178017
rs139178017 		7 100628224 splice region variant C/T snv 3.1E-03 2.8E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
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: rs1426704853
rs1426704853 		1.000 0.080 7 100641009 frameshift variant G/- delins
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: rs1562838535
rs1562838535 		1.000 0.080 7 100627598 frameshift variant G/- delins
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		0.700 1.000 1 2019 2019