Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs899673013
rs899673013
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0162566
Disease:
Porphyria Cutanea Tarda
0.010 GeneticVariation BEFREE Sequencing of HAMP revealed exonic polymorphisms in 2 patients with PCT: heterozygosity for a G-->A transition (G71D substitution) in one and heterozygosity for an A-->G transition (K83R substitution) in the other. 18809758 2008