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