HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
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: rs104894696
rs104894696
0.925 0.160 19 35284999 missense variant G/A snv 1.7E-03 1.9E-03
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2004
dbSNP: rs1462013476
rs1462013476
1.000 0.080 19 35285020 missense variant G/A snv
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2004
dbSNP: rs779021719
rs779021719
0.827 0.120 19 35284962 stop gained C/G;T snv 9.1E-05
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2004
dbSNP: rs10414846
rs10414846
19 35281568 intron variant C/T snv 0.21
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs10414846
rs10414846
19 35281568 intron variant C/T snv 0.21
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs10414846
rs10414846
19 35281568 intron variant C/T snv 0.21
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs373214016
rs373214016
19 35284607 non coding transcript exon variant T/-;TT;TTT delins
RDW - Red blood cell distribution width result
0.700 1.000 1 2017 2017
dbSNP: rs373214016
rs373214016
19 35284607 non coding transcript exon variant T/-;TT;TTT delins
Red cell distribution width determination
0.700 1.000 1 2017 2017
dbSNP: rs570714594
rs570714594
19 35285578 downstream gene variant C/T snv 5.2E-04
RDW - Red blood cell distribution width result
0.700 1.000 1 2017 2017
dbSNP: rs570714594
rs570714594
19 35285578 downstream gene variant C/T snv 5.2E-04
Red cell distribution width determination
0.700 1.000 1 2017 2017
dbSNP: rs104894695
rs104894695
0.925 0.080 19 35284953 stop gained C/T snv
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1374259518
rs1374259518
0.882 0.080 19 35284995 missense variant T/C snv
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs763369315
rs763369315
1.000 0.080 19 35285003 stop gained C/A;T snv 4.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs10421768
rs10421768
0.807 0.120 19 35281996 intron variant A/G snv 0.21
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
Infections 0.010 1.000 1 2017 2017
dbSNP: rs10421768
rs10421768
0.807 0.120 19 35281996 intron variant A/G snv 0.21
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10421768
rs10421768
0.807 0.120 19 35281996 intron variant A/G snv 0.21
CUI: C0679362
Disease: Tuberculosis, extrapulmonary
Tuberculosis, extrapulmonary
Infections 0.010 1.000 1 2017 2017
dbSNP: rs10421768
rs10421768
0.807 0.120 19 35281996 intron variant A/G snv 0.21
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10421768
rs10421768
0.807 0.120 19 35281996 intron variant A/G snv 0.21
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10421768
rs10421768
0.807 0.120 19 35281996 intron variant A/G snv 0.21
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs104894695
rs104894695
0.925 0.080 19 35284953 stop gained C/T snv
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs104894696
rs104894696
0.925 0.160 19 35284999 missense variant G/A snv 1.7E-03 1.9E-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 0.010 1.000 1 2008 2008
dbSNP: rs1374259518
rs1374259518
0.882 0.080 19 35284995 missense variant T/C snv
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1374259518
rs1374259518
0.882 0.080 19 35284995 missense variant T/C snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs200488037
rs200488037
1.000 0.040 19 35285010 stop gained C/G;T snv 8.0E-06; 2.0E-05
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2293689
rs2293689
1.000 0.120 19 35284723 non coding transcript exon variant C/T snv 2.5E-02
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017