Tag

B Vitamins

83 genetic variants with this tag.

RSID	Gene	Description	Category
rs1021737	CTH CTH Ser403Ile	Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfura...	Blood Pressure & Hypertension	B Vitamins	Moderate
rs10380	MTRR His595Tyr	Missense variant in methionine synthase reductase that impairs B12 reactivati...	Methylation & Detox	B Vitamins	Moderate
rs10483099	QDPR	Intronic variant near QDPR that affects BH4 recycling efficiency, influencing...	Methylation & Detox	B Vitamins	Emerging
rs115532916	ACAD9 ACAD9 Ala326Pro	Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causin...	Metabolic Enzymes & Rare Disorders	B Vitamins	Strong
rs1256335	ALPL	Intronic variant near ALPL associated with increased alkaline phosphatase act...	Vitamins & Nutrient Absorption	B Vitamins	Strong
rs1051266	SLC19A1 G80A (His27Arg)	Folate transporter — how well folate gets into your cells	Methylation & Detox	B Vitamins	Moderate
rs1051296	SLC19A1 SLC19A1 variant (RFC1)	3'UTR variant in the reduced folate carrier that affects miR-595 binding, alt...	Methylation & Detox	B Vitamins	Moderate
rs12272669	UNKNOWN	Intergenic variant on chromosome 11q13.4 associated with circulating vitamin ...	Appetite & Obesity	B Vitamins	Emerging
rs1051298	SLC19A1 SLC19A1 3'UTR variant (c.*746C>T)	3'UTR variant in the folate transporter gene affecting pemetrexed toxicity ri...	Methylation & Detox	B Vitamins	Moderate
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs1801198	TCN2 Pro259Arg (C776G)	Transcobalamin II variant affecting cellular delivery of vitamin B12 via holo...	Vitamins & Nutrient Absorption	B Vitamins	Strong
rs10741657	CYP2R1 promoter variant	Vitamin D activation — converts D3 to 25(OH)D in the liver	Methylation & Detox	B Vitamins	Strong
rs10925239	MTR	Deep intronic MTR variant associated with reduced cleft lip/palate risk via l...	Methylation & Detox	B Vitamins	Emerging
rs10925254	MTR	Deep intronic MTR variant associated with reduced cleft lip/palate risk via l...	Methylation & Detox	B Vitamins	Emerging
rs199971687	MMAB	Pathogenic splice acceptor variant in MMAB that abolishes adenosylcobalamin s...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs10925260	MTR	Intronic MTR variant associated with altered methionine synthase expression a...	Methylation & Detox	B Vitamins	Emerging
rs11545076	GGH -124T>G	Promoter variant that increases GGH expression, accelerating hydrolysis of in...	Methylation & Detox	B Vitamins	Moderate
rs2251780	GSR	Intronic variant in the glutathione reductase gene affecting antioxidant defe...	Vitamins & Nutrient Absorption	B Vitamins	Emerging
rs234709	CBS	Intronic CBS variant that tags the CBS locus in GWAS studies; associated with...	Vitamins & Nutrient Absorption	B Vitamins	Moderate
rs11627387	MTHFD1	Intronic variant in the cytoplasmic trifunctional folate enzyme MTHFD1, assoc...	Methylation & Detox	B Vitamins	Moderate
rs11683424	DNMT3A	Intronic variant in the de novo DNA methyltransferase DNMT3A, associated with...	Methylation & Detox	B Vitamins	Emerging
rs17679445	PNPO Arg116Gln	Missense variant in pyridoxamine 5'-phosphate oxidase that reduces the enzyme...	Hormones & Sleep	B Vitamins	Moderate
rs28941784	MMAB Arg186Trp (R186W)	Missense variant eliminating MMAB adenosylcobalamin synthase activity; the mo...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs2034650	IVD	Intronic regulatory variant in IVD (isovaleryl-CoA dehydrogenase) associated ...	Metabolic Enzymes & Rare Disorders	B Vitamins	Emerging
rs12659	SLC19A1	Synonymous variant in the folate transporter SLC19A1 — a haplotype tag linked...	Methylation & Detox	B Vitamins	Emerging
rs13420827	DNMT3A	3' UTR variant in the de novo DNA methyltransferase DNMT3A, associated with a...	Methylation & Detox	B Vitamins	Emerging
rs369296618	MMAB	Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs1532268	MTRR MTRR S175L	Missense variant in methionine synthase reductase that raises homocysteine wh...	Methylation & Detox	B Vitamins	Moderate
rs3760775	FUT6	Near-gene regulatory variant near FUT6 that reduces fucosyltransferase expres...	Vitamins & Nutrient Absorption	B Vitamins	Moderate
rs1544410	VDR BsmI	Vitamin D receptor — affects how well vitamin D activates cellular processes	Methylation & Detox	B Vitamins	Moderate
rs162036	MTRR K350R (Lys350Arg)	MTRR cobalamin-reactivation variant — reduces B12 recycling efficiency and mo...	Methylation & Detox	B Vitamins	Moderate
rs162040	MTRR	Intronic MTRR tag SNP in a haplotype block where the C-allele variant associa...	Methylation & Detox	B Vitamins	Emerging
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	B Vitamins	Emerging
rs162049	MTRR	Intronic MTRR variant associated with reduced enzyme expression and impaired ...	Methylation & Detox	B Vitamins	Emerging
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs397507174	BTD BTD Tyr190Cys	Pathogenic missense variant in biotinidase that abolishes biotin recycling; h...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs397514538	SLC52A2	Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs398123138	BTD	Pathogenic 5-bp frameshift deletion in the biotinidase enzyme gene, eliminati...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	B Vitamins	Strong
rs516246	FUT2 FUT2 rs516246	Intronic FUT2 proxy variant tagging secretor status — whether ABO blood group...	IBD & Mucosal Immunity	B Vitamins	Strong
rs1800909	GGH c.16T>C (p.Cys6Arg)	Signal-peptide missense variant that alters GGH subcellular targeting; C alle...	Methylation & Detox	B Vitamins	Moderate
rs4654748	NBPF3	Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common geneti...	Vitamins & Nutrient Absorption	B Vitamins	Strong
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	B Vitamins	Moderate
rs1801131	MTHFR A1298C	Second MTHFR variant affecting enzyme activity in the regulatory domain	Methylation & Detox	B Vitamins	Moderate
rs5749131	TCN2	Upstream regulatory variant near TCN2 associated with reduced holotranscobala...	Vitamins & Nutrient Absorption	B Vitamins	Moderate
rs1801133	MTHFR C677T	Key enzyme for converting folate to its active methylfolate form	Methylation & Detox	B Vitamins	Established
rs5753231	TCN2 TCN2 2KB Upstream Variant	Promoter-proximal upstream variant in TCN2 that increases transcobalamin II p...	Vitamins & Nutrient Absorption	B Vitamins	Emerging
rs1801181	CBS A360A	A synonymous variant in CBS affecting homocysteine metabolism and associated ...	Methylation & Detox	B Vitamins	Moderate
rs2651899	PRDM16	Intronic variant in the master regulator of brown/beige fat differentiation, ...	Fat Storage & Energy	B Vitamins	Moderate
rs601338	FUT2 W143X (Trp143Ter)	Determines secretor status — whether ABO blood group antigens are secreted in...	Vitamins & Nutrient Absorption	B Vitamins	Established
rs602662	FUT2 Gly258Ser	Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorri...	Vitamins & Nutrient Absorption	B Vitamins	Strong
rs6323	MAOA R297R	X-linked monoamine oxidase A variant affecting enzyme activity and neurotrans...	Mood & Behavior	B Vitamins	Strong
rs1801394	MTRR A66G	B12 recycling enzyme — regenerates active B12 for the methylation cycle	Methylation & Detox	B Vitamins	Moderate
rs6922269	MTHFD1L	Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...	Coronary Artery Disease & Atherosclerosis	B Vitamins	Strong
rs1802059	MTRR	Synonymous MTRR variant (c.1911G>A) associated with congenital heart disease ...	Methylation & Detox	B Vitamins	Emerging
rs2325751	PNPO	Regulatory variant 2 kb upstream of PNPO that may alter expression of the vit...	Hormones & Sleep	B Vitamins	Emerging
rs1805087	MTR A2756G	Methionine synthase — uses B12 to convert homocysteine to methionine	Methylation & Detox	B Vitamins	Moderate
rs61735836	FTCD	Missense variant in the FTCD enzyme that impairs one-carbon unit transfer fro...	Vitamins & Nutrient Absorption	B Vitamins	Strong
rs1979277	SHMT1 C1420T	Alters one-carbon metabolism and folate distribution; influences cancer risk,...	Methylation & Detox	B Vitamins	Moderate
rs202676	FOLH1 T484A	Reduces intestinal folate hydrolase activity, impairing absorption of dietary...	Methylation & Detox	B Vitamins	Moderate
rs202720	FOLH1	Intronic variant in the intestinal folate-cleaving enzyme FOLH1 (GCPII); the ...	Methylation & Detox	B Vitamins	Emerging
rs2073067	MTHFD1L MTHFD1L variant	Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...	Methylation & Detox	B Vitamins	Moderate
rs2236224	MTHFD1 MTHFD1 R653Q	Intronic tag variant in MTHFD1 in strong LD with the R653Q missense variant, ...	Methylation & Detox	B Vitamins	Moderate
rs78060698	FUT6	Intronic regulatory variant in FUT6 that alters HNF4α binding and fucosyltran...	Vitamins & Nutrient Absorption	B Vitamins	Moderate
rs2236225	MTHFD1 G1958A	Folate processing enzyme — reduced stability increases choline need	Methylation & Detox	B Vitamins	Strong
rs2275565	MTR IVS (intronic)	Intronic MTR variant associated with elevated homocysteine and B12-dependent ...	Methylation & Detox	B Vitamins	Moderate
rs897453	PEMT	PEMT missense variant (Val95Ile) reducing endogenous phosphatidylcholine synt...	Vitamins & Nutrient Absorption	B Vitamins	Moderate
rs234706	CBS C699T	Common synonymous variant in the CBS gene associated with reduced cardiovascu...	Methylation & Detox	B Vitamins	Moderate
rs2838956	SLC19A1 RFC1 intronic variant	Intronic SLC19A1 variant that tags a haplotype affecting reduced folate carri...	Methylation & Detox	B Vitamins	Emerging
rs326124	MTRR	Intronic MTRR variant associated with colorectal cancer survival in interacti...	Methylation & Detox	B Vitamins	Emerging
rs3733890	BHMT R239Q	Missense variant in betaine-homocysteine methyltransferase that reduces enzym...	Methylation & Detox	B Vitamins	Moderate
rs3776455	MTRR	Intronic MTRR variant associated with altered folate-pathway cancer risk and ...	Methylation & Detox	B Vitamins	Emerging
rs3776467	MTRR	Intronic MTRR variant with sex-specific association with DNA methylation patt...	Methylation & Detox	B Vitamins	Emerging
rs3788200	SLC19A1 SLC19A1 intron 2 variant	Intronic SLC19A1 tag variant in strong LD with the G80A folate-transporter co...	Methylation & Detox	B Vitamins	Moderate
rs3788205	SLC19A1 SLC19A1 intronic variant	Intronic marker in the folate transporter gene; tags SLC19A1 haplotype variat...	Methylation & Detox	B Vitamins	Emerging
rs4659744	MTR MTR variant	Intronic MTR variant that tags the folate/B12-dependent remethylation locus a...	Methylation & Detox	B Vitamins	Emerging
rs567754	BHMT BHMT-02	Intronic variant in betaine-homocysteine methyltransferase gene associated wi...	Methylation & Detox	B Vitamins	Moderate
rs606231425	MMACHC	Pathogenic missense variant in the cobalamin-processing enzyme; homozygosity ...	Methylation & Detox	B Vitamins	Strong
rs61886492	FOLH1 H475Y	Reduces intestinal GCPII enzyme activity by 53%, paradoxically raising circul...	Methylation & Detox	B Vitamins	Strong
rs7946	PEMT Val175Met	Phosphatidylcholine production — affects dietary choline requirements	Methylation & Detox	B Vitamins	Strong
rs819147	AHCY	Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf...	Methylation & Detox	B Vitamins	Moderate
rs828903	MTHFD2	Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-c...	Methylation & Detox	B Vitamins	Moderate
rs914232	SLC19A1 RFC1 -43T>C	Regulatory variant that reduces reduced folate carrier protein expression, im...	Methylation & Detox	B Vitamins	Moderate