Tag

Vitamins

42 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	Vitamins	Moderate
rs1062033	CYP19A1	Intronic regulatory polymorphism in the aromatase gene affecting CYP19A1 tran...	Hormones & Sleep	Vitamins	Moderate
rs10832310	CYP2R1	Intronic tag SNP at the CYP2R1/PDE3B locus on chromosome 11 that marks a hapl...	Vitamin D Metabolism	Vitamins	Strong
rs11057830	SCARB1	Intronic variant in SCARB1 that affects SR-BI receptor function and the intes...	Cholesterol & Lipoproteins	Vitamins	Moderate
rs11950646	SLC23A1	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs1993116	CYP2R1 CYP2R1 rs1993116	Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydro...	Vitamin D Metabolism	Vitamins	Moderate
rs12734494	SLC30A1	Intergenic variant near SLC30A1 (ZnT1), the primary basolateral zinc exporter...	Vitamins & Nutrient Absorption	Vitamins	Emerging
rs121918384	APOB APOB Val1856fs	Frameshift deletion in APOB causing truncated apolipoprotein B-100, reducing ...	Cholesterol & Lipoproteins	Vitamins	Strong
rs1279683	SLC23A2	Intronic variant in the SVCT2 vitamin C transporter — G allele associated wit...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs1799945	HFE H63D	Second most common hereditary hemochromatosis variant, mildly increasing iron...	Iron & Mineral Transport	Vitamins	Established
rs12934922	BCO1 Arg267Ser	Reduces beta-carotene to retinol (vitamin A) conversion efficiency, contribut...	Vitamins & Nutrient Absorption	Vitamins	Strong
rs1800562	HFE C282Y	Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...	Iron & Mineral Transport	Vitamins	Established
rs225015	DIO2 DIO2 rs225015	3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availa...	Vitamin D Metabolism	Vitamins	Moderate
rs121918386	APOB APOB Arg2085Ter	Nonsense mutation in APOB creating a premature stop codon at position 2085, p...	Cholesterol & Lipoproteins	Vitamins	Strong
rs1532423	CA1	Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 ass...	Uric Acid & Kidney Function	Vitamins	Moderate
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	Vitamins	Established
rs121918388	APOB APOB Q2279X	Nonsense variant creating a premature stop codon at amino acid 2279 of apolip...	Cholesterol & Lipoproteins	Vitamins	Strong
rs174535	MYRF	Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associ...	Triglycerides & Fatty Acids	Vitamins	Moderate
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Vitamins	Established
rs228918	TMPRSS6 TMPRSS6 upstream regulatory variant	Regulatory variant upstream of the iron-homeostasis gene TMPRSS6, associated ...	Iron & Mineral Transport	Vitamins	Moderate
rs2120019	PPCDC	Intronic variant in PPCDC associated with lower circulating serum zinc levels...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs174548	FADS1	Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...	Triglycerides & Fatty Acids	Vitamins	Strong
rs2235321	TMPRSS6 TMPRSS6 synonymous variant (hepcidin modulator)	Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs2413450	TMPRSS6 TMPRSS6 iron regulation variant	Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin level...	Iron & Mineral Transport	Vitamins	Strong
rs7936142	CYP2R1 CYP2R1 rs7936142	Intronic variant in the primary hepatic vitamin D 25-hydroxylase gene associa...	Vitamin D Metabolism	Vitamins	Moderate
rs387907018	TMPRSS6 Matriptase-2 E522K	Rare pathogenic TMPRSS6 missense in the LDLRA2 domain that impairs hemojuveli...	Iron & Mineral Transport	Vitamins	Strong
rs4820268	TMPRSS6 TMPRSS6 D512E	TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu...	Iron & Mineral Transport	Vitamins	Strong
rs5756504	TMPRSS6 TMPRSS6 variant	Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte pa...	Iron & Mineral Transport	Vitamins	Moderate
rs5756506	TMPRSS6	Intronic TMPRSS6 variant associated with hemoglobin and hematocrit levels, in...	Iron & Mineral Transport	Vitamins	Emerging
rs33972313	SLC23A1 Val264Met	Primary intestinal and renal vitamin C transporter — variant reduces ascorbat...	Vitamins & Nutrient Absorption	Vitamins	Strong
rs7385804	TFR2	Intronic variant in transferrin receptor 2 that tags altered TFR2 expression ...	Iron & Mineral Transport	Vitamins	Strong
rs855791	TMPRSS6 Ala736Val	Master regulator of iron absorption via hepcidin control — the strongest comm...	Iron & Mineral Transport	Vitamins	Established
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Vitamins	Established
rs397507174	BTD BTD Tyr190Cys	Pathogenic missense variant in biotinidase that abolishes biotin recycling; h...	Vitamins & Nutrient Absorption	Vitamins	Established
rs398123138	BTD	Pathogenic 5-bp frameshift deletion in the biotinidase enzyme gene, eliminati...	Vitamins & Nutrient Absorption	Vitamins	Established
rs2727271	FADS2	Intronic variant in FADS2 (delta-6 desaturase) associated with reduced enzyme...	Triglycerides & Fatty Acids	Vitamins	Moderate
rs601338	FUT2 W143X (Trp143Ter)	Determines secretor status — whether ABO blood group antigens are secreted in...	Vitamins & Nutrient Absorption	Vitamins	Established
rs6053005	SLC23A2	Intronic variant in the SVCT2 tissue vitamin C transporter — associated with ...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs6133175	SLC23A2	Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes c...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs6596471	SLC23A1 SLC23A1 variant	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs6596473	SLC23A1 SLC23A1 variant	Intronic variant in the intestinal and renal vitamin C transporter gene (SVCT...	Vitamins & Nutrient Absorption	Vitamins	Emerging
rs6994076	TTPA -980T>A	Regulates expression of the alpha-tocopherol transfer protein, the key determ...	Vitamins & Nutrient Absorption	Vitamins	Strong