Research
Tag

Vitamin B12

12 genetic variants with this tag.

RSID Gene Description Category
rs12272669 UNKNOWN Intergenic variant on chromosome 11q13.4 associated with circulating vitamin ... Appetite & Obesity Emerging
rs1801198 TCN2 Pro259Arg (C776G) Transcobalamin II variant affecting cellular delivery of vitamin B12 via holo... Vitamins & Nutrient Absorption Strong
rs199971687 MMAB Pathogenic splice acceptor variant in MMAB that abolishes adenosylcobalamin s... Vitamins & Nutrient Absorption Established
rs28941784 MMAB Arg186Trp (R186W) Missense variant eliminating MMAB adenosylcobalamin synthase activity; the mo... Vitamins & Nutrient Absorption Established
rs369296618 MMAB Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs... Vitamins & Nutrient Absorption Established
rs162036 MTRR K350R (Lys350Arg) MTRR cobalamin-reactivation variant — reduces B12 recycling efficiency and mo... Methylation & Detox Moderate
rs5749131 TCN2 Upstream regulatory variant near TCN2 associated with reduced holotranscobala... Vitamins & Nutrient Absorption Moderate
rs5753231 TCN2 TCN2 2KB Upstream Variant Promoter-proximal upstream variant in TCN2 that increases transcobalamin II p... Vitamins & Nutrient Absorption Emerging
rs601338 FUT2 W143X (Trp143Ter) Determines secretor status — whether ABO blood group antigens are secreted in... Vitamins & Nutrient Absorption Established
rs602662 FUT2 Gly258Ser Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorri... Vitamins & Nutrient Absorption Strong
rs78060698 FUT6 Intronic regulatory variant in FUT6 that alters HNF4α binding and fucosyltran... Vitamins & Nutrient Absorption Moderate
rs606231425 MMACHC Pathogenic missense variant in the cobalamin-processing enzyme; homozygosity ... Methylation & Detox Strong