Tag

Vitamins

21 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
rs11057830	SCARB1	Intronic variant in SCARB1 that affects SR-BI receptor function and the intes...	Cholesterol & Lipoproteins	Vitamins	Moderate
rs1993116	CYP2R1 CYP2R1 rs1993116	Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydro...	Vitamin D Metabolism	Vitamins	Moderate
rs1279683	SLC23A2	Intronic variant in the SVCT2 vitamin C transporter — G allele associated wit...	Vitamins & Nutrient Absorption	Vitamins	Moderate
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
rs1800562	HFE C282Y	Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...	Iron & Mineral Transport	Vitamins	Established
rs2120019	PPCDC	Intronic variant in PPCDC associated with lower circulating serum zinc levels...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs225015	DIO2 DIO2 rs225015	3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availa...	Vitamin D Metabolism	Vitamins	Moderate
rs174535	MYRF	Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associ...	Triglycerides & Fatty Acids	Vitamins	Moderate
rs2235321	TMPRSS6 TMPRSS6 synonymous variant (hepcidin modulator)	Synonymous coding variant in TMPRSS6 associated with hepcidin levels and iron...	Vitamins & Nutrient Absorption	Vitamins	Moderate
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Vitamins	Established
rs2413450	TMPRSS6 TMPRSS6 iron regulation variant	Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin level...	Iron & Mineral Transport	Vitamins	Strong
rs5756504	TMPRSS6 TMPRSS6 variant	Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte pa...	Iron & Mineral Transport	Vitamins	Moderate
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
rs601338	FUT2 W143X (Trp143Ter)	Determines secretor status — whether ABO blood group antigens are secreted in...	Vitamins & Nutrient Absorption	Vitamins	Established
rs6133175	SLC23A2	Intronic variant in the tissue vitamin C transporter SVCT2 — GG homozygotes c...	Vitamins & Nutrient Absorption	Vitamins	Moderate