HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
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: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0.973 260 1997 2019
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0.991 114 1996 2019
dbSNP: rs1554154042
rs1554154042
1.000 0.080 6 26092828 frameshift variant A/- delins
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs749553271
rs749553271
1.000 0.080 6 26092960 stop gained G/T snv 2.1E-05
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs765804978
rs765804978
1.000 0.080 6 26091519 frameshift variant CC/- del
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1800730
rs1800730
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 0.947 19 1999 2019
dbSNP: rs143175221
rs143175221
0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2002 2012
dbSNP: rs111033563
rs111033563
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1167115018
rs1167115018
0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs140080192
rs140080192
1.000 0.080 6 26092897 missense variant G/A;C snv 3.6E-03
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs202068193
rs202068193
1.000 0.080 6 26092834 missense variant G/A snv 5.6E-05 1.4E-05
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs35201683
rs35201683
0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs765545512
rs765545512
0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs773624350
rs773624350
1.000 0.080 6 26092887 synonymous variant C/T snv 4.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs777018511
rs777018511
0.925 0.080 6 26091451 frameshift variant C/- delins 1.2E-05 7.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs780246573
rs780246573
0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001