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: 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: 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: 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: rs35201683
rs35201683 		0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2003
dbSNP: rs35201683
rs35201683 		0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2006
dbSNP: rs35201683
rs35201683 		0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2003
dbSNP: rs765545512
rs765545512 		0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.030 1.000 3 2011 2018
dbSNP: rs780246573
rs780246573 		0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2003
dbSNP: rs780246573
rs780246573 		0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2006
dbSNP: rs780246573
rs780246573 		0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2003
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: rs35201683
rs35201683 		0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.020 1.000 2 2001 2003
dbSNP: rs35201683
rs35201683 		0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2008
dbSNP: rs780246573
rs780246573 		0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2008
dbSNP: rs780246573
rs780246573 		0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.020 1.000 2 2001 2003
dbSNP: rs111033563
rs111033563 		0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
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: rs111033563
rs111033563 		0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563 		0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563 		0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563 		0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563 		0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1156920296
rs1156920296 		0.925 0.080 6 26092918 missense variant G/A snv
CUI: C0014173
Disease: Endometrial Hyperplasia
Endometrial Hyperplasia 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs1156920296
rs1156920296 		0.925 0.080 6 26092918 missense variant G/A snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs1221576286
rs1221576286 		1.000 0.040 6 26092949 missense variant T/C snv 4.0E-06
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006