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: 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: 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: rs786204108
rs786204108 		1.000 0.080 7 100626866 missense variant C/G;T snv 1.3E-05
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2013 2015
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: 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
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
EEG with generalized epileptiform discharges 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019