HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Sporadic porphyria cutanea tarda ×
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: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.030 0.667 3 2000 2005
dbSNP: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.030 0.667 3 2000 2005
dbSNP: rs1800730
rs1800730 		0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic 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 2002 2002