Tag

Iron

21 genetic variants with this tag.

RSID	Gene	Description	Category
rs12232375	ZFPM1 ZFPM1 Hematology/Cardiac Locus Variant	Intronic ZFPM1 variant tagging reduced GATA cofactor regulatory activity; the...	Arrhythmia & Heart Rhythm	Iron	Strong
rs1799945	HFE H63D	Second most common hereditary hemochromatosis variant, mildly increasing iron...	Iron & Mineral Transport	Iron	Established
rs1800562	HFE C282Y	Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...	Iron & Mineral Transport	Iron	Established
rs10839553	CCKBR	Intronic variant near the cholecystokinin B receptor gene associated with res...	Neurology & Cognition	Iron	Strong
rs1800730	HFE S65C	Third HFE variant associated with hemochromatosis; mildly impairs iron regula...	Iron & Mineral Transport	Iron	Moderate
rs2075674	TFR2 TFR2 Ala617 variant	Synonymous coding variant in transferrin receptor 2 with potential splice-mod...	Iron & Mineral Transport	Iron	Emerging
rs228918	TMPRSS6 TMPRSS6 upstream regulatory variant	Regulatory variant upstream of the iron-homeostasis gene TMPRSS6, associated ...	Iron & Mineral Transport	Iron	Moderate
rs228921	TMPRSS6 TMPRSS6 iron regulation variant	Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin...	Iron & Mineral Transport	Iron	Strong
rs2235321	TMPRSS6 TMPRSS6 synonymous variant (hepcidin modulator)	Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron...	Vitamins & Nutrient Absorption	Iron	Moderate
rs2413450	TMPRSS6 TMPRSS6 iron regulation variant	Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin level...	Iron & Mineral Transport	Iron	Strong
rs12304921	SLC11A2	Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, ...	Fat Storage & Energy	Iron	Emerging
rs387907018	TMPRSS6 Matriptase-2 E522K	Rare pathogenic TMPRSS6 missense in the LDLRA2 domain that impairs hemojuveli...	Iron & Mineral Transport	Iron	Strong
rs4820268	TMPRSS6 TMPRSS6 D512E	TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu...	Iron & Mineral Transport	Iron	Strong
rs5756504	TMPRSS6 TMPRSS6 variant	Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte pa...	Iron & Mineral Transport	Iron	Moderate
rs12693542	SLC40A1	Regulatory variant upstream of ferroportin (the sole cellular iron exporter) ...	Neurology & Cognition	Iron	Strong
rs5756506	TMPRSS6	Intronic TMPRSS6 variant associated with hemoglobin and hematocrit levels, in...	Iron & Mineral Transport	Iron	Emerging
rs7385804	TFR2	Intronic variant in transferrin receptor 2 that tags altered TFR2 expression ...	Iron & Mineral Transport	Iron	Strong
rs855791	TMPRSS6 Ala736Val	Master regulator of iron absorption via hepcidin control — the strongest comm...	Iron & Mineral Transport	Iron	Established
rs4434553	TFR2 TFR2 upstream variant	Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production a...	Vitamins & Nutrient Absorption	Iron	Emerging
rs3923809	BTBD9	Second independent intronic BTBD9 variant associated with restless legs syndr...	Hormones & Sleep	Iron	Strong
rs9394502	BTBD9 BTBD9 insomnia/RLS variant	Intronic variant in the canonical restless legs syndrome gene BTBD9, associat...	Hormones & Sleep	Iron	Strong