Iron & Mineral Transport

3'UTR regulatory variant in the primary intestinal zinc efflux transporter, with potential impact on ZnT1 expression and systemic zinc status

Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing acrodermatitis enteropathica — a rare autosomal recessive disorder of severe zinc deficiency — when inherited in biallelic form

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

Missense variant in ZIP4 zinc transporter causing total loss of intestinal zinc absorption when homozygous; responsible for classical acrodermatitis enteropathica

Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygosity causes acrodermatitis enteropathica, a rare but fully treatable zinc malabsorption disorder

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing hereditary acrodermatitis enteropathica when homozygous; heterozygotes are asymptomatic carriers

Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter, causing autosomal recessive acrodermatitis enteropathica — a treatable zinc malabsorption disorder

Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing acrodermatitis enteropathica in homozygotes and obligate carrier status in heterozygotes

Second most common hereditary hemochromatosis variant, mildly increasing iron absorption and modestly raising iron stores

Primary variant causing hereditary hemochromatosis type 1, disrupting iron regulation and hepcidin signaling

Third HFE variant associated with hemochromatosis; mildly impairs iron regulation and raises transferrin saturation when coinherited with C282Y or H63D

Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating a premature stop codon (p.Trp401Ter) that abolishes ZIP4 function and causes autosomal recessive acrodermatitis enteropathica when inherited biallelically; heterozygous carriers retain adequate zinc absorption under normal conditions but warrant monitoring during high-demand states

Pathogenic missense variant in the copper transporter ATP7B; heterozygous carriers are asymptomatic but can pass Wilson disease to children if their partner also carries an ATP7B pathogenic variant

Synonymous coding variant in transferrin receptor 2 with potential splice-modifying activity, associated with age-related macular degeneration in case-control studies via iron-mediated retinal oxidative stress

Intronic variant in SLC30A1 (ZnT1), the primary plasma-membrane zinc efflux transporter; the minor A allele may influence transporter expression and has been associated with modestly altered intracellular zinc homeostasis relevant to immune signaling, erythropoiesis, and cellular antioxidant capacity

Regulatory variant upstream of the iron-homeostasis gene TMPRSS6, associated with variation in serum iron, transferrin saturation, hemoglobin, and soluble transferrin receptor across populations

Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin and iron status via the hepcidin axis, operating in a separate haplotype block from the well-characterized Ala736Val variant

Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin levels — adds locus-depth coverage of the TMPRSS6 iron-regulation axis beyond the primary Ala736Val missense variant

Intronic variant in the ZnT1 zinc efflux transporter gene; the minor C allele (plus-strand) tags a regulatory haplotype that may modestly reduce SLC30A1 expression or function, potentially lowering the efficiency of basolateral zinc export from intestinal enterocytes into the portal circulation and impairing the zinc-flux capacity of macrophages and other cells that depend on ZnT1 for intracellular zinc homeostasis

Rare pathogenic TMPRSS6 missense in the LDLRA2 domain that impairs hemojuvelin cleavage and causes iron-refractory iron deficiency anemia (IRIDA) by preventing hepcidin suppression

TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu) raises hepcidin and lowers iron absorption, particularly affecting iron status in menstruating women and those with marginal intake

Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte parameters through the hepcidin-regulatory pathway, independently contributing to iron status alongside the rs855791 coding variant

Intronic TMPRSS6 variant associated with hemoglobin and hematocrit levels, influencing iron status through the hepcidin-regulatory pathway

Intronic variant in transferrin receptor 2 that tags altered TFR2 expression and iron-sensing function in hepatocytes, associating with lower transferrin saturation and serum iron in the C-allele direction

Master regulator of iron absorption via hepcidin control — the strongest common genetic determinant of iron status