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: 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: 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: 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: 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: rs772104483
rs772104483 		1.000 0.080 7 100628288 missense variant C/A snv 8.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs773050231
rs773050231 		1.000 0.080 7 100628299 frameshift variant C/- delins 1.1E-04
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338877
rs80338877 		1.000 0.080 7 100641173 frameshift variant -/G delins 7.5E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338878
rs80338878 		1.000 0.080 7 100640846 stop gained G/A snv 1.6E-05 7.0E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338881
rs80338881 		0.925 0.080 7 100632099 stop gained G/A snv
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338882
rs80338882 		0.851 0.080 7 100630973 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338883
rs80338883 		1.000 0.080 7 100630922 inframe deletion TTG/- delins
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338884
rs80338884 		1.000 0.080 7 100629313 missense variant C/T snv 1.4E-05
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338886
rs80338886 		0.882 0.080 7 100628228 missense variant A/C snv
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338887
rs80338887 		1.000 0.080 7 100627761 frameshift variant G/- delins
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338888
rs80338888 		1.000 0.080 7 100627387 inframe insertion CTGGGCCACGGC/-;CTGGGCCACGGCCTGGGCCACGGC delins 2.1E-05
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338890
rs80338890 		1.000 0.080 7 100621127 splice acceptor variant C/T snv 7.7E-06 7.0E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80338891
rs80338891 		0.851 0.080 7 100620889 missense variant C/T snv 4.8E-05 5.6E-05
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: 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: 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: 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