Tag

Minerals

29 genetic variants with this tag.

RSID	Gene	Description	Category
rs11277	SLC30A1 ZnT1 variant	3'UTR regulatory variant in the primary intestinal zinc efflux transporter, w...	Iron & Mineral Transport	Minerals	Emerging
rs121434287	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing ...	Iron & Mineral Transport	Minerals	Established
rs12640848	ENAM	Intronic variant in the ENAM enamelin gene associated with altered dental car...	Dental & Oral Health	Minerals	Moderate
rs121434288	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Minerals	Established
rs11726117	ALPK1 ALPK1 variant	Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele ...	Uric Acid & Kidney Function	Minerals	Moderate
rs17878486	AMELX	Intronic variant in amelogenin X-linked gene affecting enamel mineralization ...	Dental & Oral Health	Minerals	Moderate
rs121434290	SLC39A4 SLC39A4 p.Asn106Lys	Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygo...	Iron & Mineral Transport	Minerals	Established
rs198968	KLK4	Intronic variant in kallikrein-related peptidase 4 gene affecting KLK4 expres...	Dental & Oral Health	Minerals	Moderate
rs121434291	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Minerals	Established
rs2235091	KLK4	Intronic variant in kallikrein-4 that encodes the enamel maturation protease;...	Dental & Oral Health	Minerals	Moderate
rs121434292	SLC39A4 Arg95Cys	Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter,...	Iron & Mineral Transport	Minerals	Established
rs121434293	SLC39A4 SLC39A4 Gln278His	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing a...	Iron & Mineral Transport	Minerals	Established
rs12734494	SLC30A1	Intergenic variant near SLC30A1 (ZnT1), the primary basolateral zinc exporter...	Vitamins & Nutrient Absorption	Minerals	Emerging
rs2242670	KLK4	Intronic variant near the KLK4 enamel-maturation protease gene associated wit...	Dental & Oral Health	Minerals	Moderate
rs1799945	HFE H63D	Second most common hereditary hemochromatosis variant, mildly increasing iron...	Iron & Mineral Transport	Minerals	Established
rs1532423	CA1	Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 ass...	Uric Acid & Kidney Function	Minerals	Moderate
rs1800730	HFE S65C	Third HFE variant associated with hemochromatosis; mildly impairs iron regula...	Iron & Mineral Transport	Minerals	Moderate
rs200482978	SLC39A4	Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating...	Iron & Mineral Transport	Minerals	Established
rs201038679	ATP7B P992L	Pathogenic missense variant in the copper transporter ATP7B; heterozygous car...	Iron & Mineral Transport	Minerals	Established
rs2018643	SLC2A9 SLC2A9 rs2018643	Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4;...	Uric Acid & Kidney Function	Minerals	Moderate
rs182506368	SLC39A4 SLC39A4 p.Ala99Thr	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Vitamins & Nutrient Absorption	Minerals	Established
rs1871534	SLC39A4 Leu372Val	Common missense variant in the primary intestinal zinc transporter ZIP4; the ...	Vitamins & Nutrient Absorption	Minerals	Strong
rs2278651	SLC30A1 ZnT1 variant	Intronic variant in SLC30A1 (ZnT1), the primary plasma-membrane zinc efflux t...	Iron & Mineral Transport	Minerals	Emerging
rs228918	TMPRSS6 TMPRSS6 upstream regulatory variant	Regulatory variant upstream of the iron-homeostasis gene TMPRSS6, associated ...	Iron & Mineral Transport	Minerals	Moderate
rs2120019	PPCDC	Intronic variant in PPCDC associated with lower circulating serum zinc levels...	Vitamins & Nutrient Absorption	Minerals	Moderate
rs2235321	TMPRSS6 TMPRSS6 synonymous variant (hepcidin modulator)	Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron...	Vitamins & Nutrient Absorption	Minerals	Moderate
rs12304921	SLC11A2	Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, ...	Fat Storage & Energy	Minerals	Emerging
rs3738198	SLC30A1 ZnT1 variant	Intronic variant in the ZnT1 zinc efflux transporter gene; the minor C allele...	Iron & Mineral Transport	Minerals	Emerging
rs28942074	ATP7B R778L	Pathogenic missense variant in the hepatic copper transporter ATP7B that abol...	Vitamins & Nutrient Absorption	Minerals	Established