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: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.900 0.976 248 1996 2019
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.840 1.000 5 2011 2019
dbSNP: rs111033563
rs111033563 		0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 18 1996 2008
dbSNP: rs28934597
rs28934597 		0.925 0.080 6 26091041 missense variant G/C snv 1.2E-05 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 18 1996 2008
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: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0.960 99 1996 2019
dbSNP: rs111033558
rs111033558 		1.000 0.080 6 26093215 missense variant G/C;T snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1996 2008
dbSNP: rs28934595
rs28934595 		0.925 0.160 6 26091354 missense variant A/C snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1996 2008
dbSNP: rs28934596
rs28934596 		1.000 0.080 6 26091078 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1996 2008
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.800 0.882 17 2003 2016
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 4 2009 2012
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 3 2012 2018
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2010 2013
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.800 1.000 2 2009 2016
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.800 1.000 2 2009 2017
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.800 1.000 2 2009 2012
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.800 1.000 1 2011 2011
dbSNP: rs1800730
rs1800730 		0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.760 0.857 7 1999 2012
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.720 1.000 2 2003 2010
dbSNP: rs146519482
rs146519482 		0.925 0.080 6 26091475 stop gained G/C;T snv 4.5E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 2 2000 2002
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1999 1999
dbSNP: rs143175221
rs143175221 		0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 18 1996 2008