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: 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 0.100 0.889 18 1998 2014
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
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 0.100 0.909 11 1998 2014
dbSNP: rs1800730
rs1800730
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
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 2003 2008
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: rs899673013
rs899673013
1.000 0.160 6 26091530 missense variant A/G snv
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