Tag

Micronutrients

91 genetic variants with this tag.

RSID	Gene	Description	Category
rs10063949	SLC23A1 SLC23A1 variant	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs10745742	AMDHD1	Intronic variant in the histidine-catabolism gene AMDHD1 that influences circ...	Metabolic Enzymes & Rare Disorders	Micronutrients	Strong
rs10766197	CYP2R1	Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lower...	Vitamin D Metabolism	Micronutrients	Strong
rs11277	SLC30A1 ZnT1 variant	3'UTR regulatory variant in the primary intestinal zinc efflux transporter, w...	Iron & Mineral Transport	Micronutrients	Emerging
rs104893665	SPR Arg150Gly	Pathogenic missense variant in sepiapterin reductase that abolishes BH4 biosy...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs10832310	CYP2R1	Intronic tag SNP at the CYP2R1/PDE3B locus on chromosome 11 that marks a hapl...	Vitamin D Metabolism	Micronutrients	Strong
rs1165196	SLC17A1 SLC17A1 T269I (NPT1)	Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G a...	Uric Acid & Kidney Function	Micronutrients	Moderate
rs121434287	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the intestinal zinc transporter ZIP4, causing ...	Iron & Mineral Transport	Micronutrients	Established
rs1148259	ANKRD30A	Synonymous variant in the 3′ UTR of ANKRD30A associated with altered circulat...	Metabolic Enzymes & Rare Disorders	Micronutrients	Emerging
rs1155563	GC	Third independent intronic tag SNP in the vitamin D binding protein gene, inf...	Vitamin D Metabolism	Micronutrients	Strong
rs1165205	SLC17A3 SLC17A3 variant (NPT4)	Intronic variant in SLC17A3, encoding the renal apical urate efflux transport...	Uric Acid & Kidney Function	Micronutrients	Moderate
rs121434288	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Micronutrients	Established
rs11950646	SLC23A1	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs121434289	SLC39A4 Gly374Arg	Missense variant in ZIP4 zinc transporter causing total loss of intestinal zi...	Iron & Mineral Transport	Micronutrients	Established
rs1183201	SLC17A1	Intronic variant in SLC17A1 (NPT1), the renal apical urate efflux transporter...	Uric Acid & Kidney Function	Micronutrients	Strong
rs121434290	SLC39A4 SLC39A4 p.Asn106Lys	Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygo...	Iron & Mineral Transport	Micronutrients	Established
rs121917746	SPR Q119X	Nonsense variant in sepiapterin reductase that abolishes BH4 biosynthesis, ca...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs121434291	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Micronutrients	Established
rs121917747	SPR	Nonsense variant in sepiapterin reductase creating a premature stop codon (p....	Vitamins & Nutrient Absorption	Micronutrients	Established
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Micronutrients	Strong
rs121434292	SLC39A4 Arg95Cys	Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter,...	Iron & Mineral Transport	Micronutrients	Established
rs2060793	CYP2R1	Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase exp...	Vitamin D Metabolism	Micronutrients	Strong
rs121434293	SLC39A4 SLC39A4 Gln278His	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing a...	Iron & Mineral Transport	Micronutrients	Established
rs12734494	SLC30A1	Intergenic variant near SLC30A1 (ZnT1), the primary basolateral zinc exporter...	Vitamins & Nutrient Absorption	Micronutrients	Emerging
rs1279683	SLC23A2	Intronic variant in the SVCT2 vitamin C transporter — G allele associated wit...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs225011	DIO2	Intronic DIO2 variant nominally associated with Graves' disease susceptibilit...	Vitamin D Metabolism	Micronutrients	Emerging
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	Metabolic Enzymes & Rare Disorders	Micronutrients	Established
rs225015	DIO2 DIO2 rs225015	3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availa...	Vitamin D Metabolism	Micronutrients	Moderate
rs1151996	PPARG PPARG rs1151996	Intronic PPARG variant significantly associated with circulating vitamin D le...	Fat Storage & Energy	Micronutrients	Moderate
rs12144344	ST6GALNAC3	Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circu...	Metabolic Enzymes & Rare Disorders	Micronutrients	Emerging
rs12272669	UNKNOWN	Intergenic variant on chromosome 11q13.4 associated with circulating vitamin ...	Appetite & Obesity	Micronutrients	Emerging
rs145946881	MCM6 -14010G>C	African lactase persistence variant — MCM6 enhancer SNP that controls LCT exp...	Vitamins & Nutrient Absorption	Micronutrients	Strong
rs1532423	CA1	Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 ass...	Uric Acid & Kidney Function	Micronutrients	Moderate
rs1800730	HFE S65C	Third HFE variant associated with hemochromatosis; mildly impairs iron regula...	Iron & Mineral Transport	Micronutrients	Moderate
rs2282679	GC	Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...	Vitamin D Metabolism	Micronutrients	Established
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Micronutrients	Established
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs200482978	SLC39A4	Pathogenic nonsense variant in the intestinal zinc transporter ZIP4, creating...	Iron & Mineral Transport	Micronutrients	Established
rs182506368	SLC39A4 SLC39A4 p.Ala99Thr	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs2075674	TFR2 TFR2 Ala617 variant	Synonymous coding variant in transferrin receptor 2 with potential splice-mod...	Iron & Mineral Transport	Micronutrients	Emerging
rs1871534	SLC39A4 Leu372Val	Common missense variant in the primary intestinal zinc transporter ZIP4; the ...	Vitamins & Nutrient Absorption	Micronutrients	Strong
rs4752	GC GC rs4752	Synonymous variant in vitamin D binding protein that tags distinct GC haploty...	Vitamin D Metabolism	Micronutrients	Moderate
rs142967670	GCDH R88C	Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity cause...	Metabolic Enzymes & Rare Disorders	Micronutrients	Established
rs2120019	PPCDC	Intronic variant in PPCDC associated with lower circulating serum zinc levels...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs228921	TMPRSS6 TMPRSS6 iron regulation variant	Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin...	Iron & Mineral Transport	Micronutrients	Strong
rs7041	GC Asp432Glu	Vitamin D binding protein variant that determines VDBP isoform, affecting vit...	Vitamin D Metabolism	Micronutrients	Strong
rs174548	FADS1	Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...	Triglycerides & Fatty Acids	Micronutrients	Strong
rs2235321	TMPRSS6 TMPRSS6 synonymous variant (hepcidin modulator)	Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs2413450	TMPRSS6 TMPRSS6 iron regulation variant	Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin level...	Iron & Mineral Transport	Micronutrients	Strong
rs705117	GC	Intronic GC variant independently associated with vitamin D binding protein (...	Vitamin D Metabolism	Micronutrients	Strong
rs3738198	SLC30A1 ZnT1 variant	Intronic variant in the ZnT1 zinc efflux transporter gene; the minor C allele...	Iron & Mineral Transport	Micronutrients	Emerging
rs7936142	CYP2R1 CYP2R1 rs7936142	Intronic variant in the primary hepatic vitamin D 25-hydroxylase gene associa...	Vitamin D Metabolism	Micronutrients	Moderate
rs174561	FADS1	Intronic variant in the FADS1 gene cluster that tags a haplotype block contro...	Triglycerides & Fatty Acids	Micronutrients	Strong
rs387907018	TMPRSS6 Matriptase-2 E522K	Rare pathogenic TMPRSS6 missense in the LDLRA2 domain that impairs hemojuveli...	Iron & Mineral Transport	Micronutrients	Strong
rs2413775	SLC28A2	Promoter variant that increases SLC28A2/CNT2 transcription via enhanced HNF1 ...	Vitamins & Nutrient Absorption	Micronutrients	Emerging
rs4519796	SLC2A9 SLC2A9 rs4519796	Intronic SLC2A9 tag variant tracking the GLUT9 urate-reabsorption haplotype; ...	Uric Acid & Kidney Function	Micronutrients	Emerging
rs4820268	TMPRSS6 TMPRSS6 D512E	TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu...	Iron & Mineral Transport	Micronutrients	Strong
rs174572	FADS2	Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing...	Triglycerides & Fatty Acids	Micronutrients	Strong
rs28941784	MMAB Arg186Trp (R186W)	Missense variant eliminating MMAB adenosylcobalamin synthase activity; the mo...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs4580649	SLC2A9 SLC2A9 rs4580649	Intronic variant in the major renal urate transporter SLC2A9 (GLUT9); the A a...	Uric Acid & Kidney Function	Micronutrients	Moderate
rs5756504	TMPRSS6 TMPRSS6 variant	Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte pa...	Iron & Mineral Transport	Micronutrients	Moderate
rs842999	GC	Intronic GC variant tagging a haplotype associated with lower circulating 25-...	Vitamin D Metabolism	Micronutrients	Moderate
rs2034650	IVD	Intronic regulatory variant in IVD (isovaleryl-CoA dehydrogenase) associated ...	Metabolic Enzymes & Rare Disorders	Micronutrients	Emerging
rs5756506	TMPRSS6	Intronic TMPRSS6 variant associated with hemoglobin and hematocrit levels, in...	Iron & Mineral Transport	Micronutrients	Emerging
rs33972313	SLC23A1 Val264Met	Primary intestinal and renal vitamin C transporter — variant reduces ascorbat...	Vitamins & Nutrient Absorption	Micronutrients	Strong
rs7385804	TFR2	Intronic variant in transferrin receptor 2 that tags altered TFR2 expression ...	Iron & Mineral Transport	Micronutrients	Strong
rs17606561	ELOVL2	3'-UTR variant in ELOVL2 associated with altered EPA-to-DHA conversion; A all...	Triglycerides & Fatty Acids	Micronutrients	Moderate
rs3877899	SELENOP Ala234Thr	Missense variant in selenoprotein P that alters selenium transport capacity; ...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	Micronutrients	Emerging
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Micronutrients	Established
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs2197076	FABP1	Intronic FABP1 variant associated with type 2 diabetes risk and insulin resis...	Triglycerides & Fatty Acids	Micronutrients	Moderate
rs397507174	BTD BTD Tyr190Cys	Pathogenic missense variant in biotinidase that abolishes biotin recycling; h...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs7435196	SLC2A9	Intronic SLC2A9 variant located within the GLUT9 renal urate transporter gene...	Uric Acid & Kidney Function	Micronutrients	Emerging
rs397514538	SLC52A2	Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs7660895	SLC2A9	Intronic variant in the major renal urate transporter GLUT9; the G allele red...	Uric Acid & Kidney Function	Micronutrients	Strong
rs398123138	BTD	Pathogenic 5-bp frameshift deletion in the biotinidase enzyme gene, eliminati...	Vitamins & Nutrient Absorption	Micronutrients	Established
rs41380347	MCM6 G-13915T	East African lactase persistence allele — MCM6 enhancer SNP that independentl...	Vitamins & Nutrient Absorption	Micronutrients	Strong
rs4434553	TFR2 TFR2 upstream variant	Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production a...	Vitamins & Nutrient Absorption	Micronutrients	Emerging
rs66791338	IVD 5-bp IVD regulatory region indel	Intronic 5-bp indel (AAAGG) in the IVD regulatory region that is the primary ...	Metabolic Enzymes & Rare Disorders	Micronutrients	Moderate
rs2727270	FADS2	Intronic regulatory variant in FADS2 that tags a 10-SNP haplotype reducing ba...	Triglycerides & Fatty Acids	Micronutrients	Moderate
rs5753231	TCN2 TCN2 2KB Upstream Variant	Promoter-proximal upstream variant in TCN2 that increases transcobalamin II p...	Vitamins & Nutrient Absorption	Micronutrients	Emerging
rs72552297	OTC Asn10fs (c.29_32del)	Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylas...	Metabolic Enzymes & Rare Disorders	Micronutrients	Established
rs8018720	SEC23A	Missense variant in the COPII vesicle coat protein SEC23A, associated with ci...	Metabolic Enzymes & Rare Disorders	Micronutrients	Emerging
rs2854747	IGFBP3	Intronic variant in IGFBP3 — the gene encoding the main carrier protein for I...	Fat Storage & Energy	Micronutrients	Moderate
rs6053005	SLC23A2	Intronic variant in the SVCT2 tissue vitamin C transporter — associated with ...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Micronutrients	Established
rs6133175	SLC23A2	Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes c...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs6596471	SLC23A1 SLC23A1 variant	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Micronutrients	Moderate
rs6596473	SLC23A1 SLC23A1 variant	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Micronutrients	Emerging
rs99780	FADS2	Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase ac...	Triglycerides & Fatty Acids	Micronutrients	Moderate