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: rs80338876
rs80338876
1.000 0.080 7 100641198 missense variant C/T snv 7.8E-05 1.3E-04
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: 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
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: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.800 1.000 1 2009 2009
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: 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: 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: rs750609759
rs750609759
1.000 0.080 7 100627822 splice acceptor variant T/C snv 1.6E-05 7.0E-06
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: 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: rs9801017
rs9801017
7 100638579 intron variant G/A snv 0.65
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
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
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
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs139178017
rs139178017
7 100628224 splice region variant C/T snv 3.1E-03 2.8E-03
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
RDW - Red blood cell distribution width result
0.700 1.000 1 2016 2016
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