Tag
Homocysteine
47 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 | Moderate | |
| rs10380 | MTRR His595Tyr | Missense variant in methionine synthase reductase that impairs B12 reactivati... | Methylation & Detox | Moderate | |
| 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 | |
| rs10925239 | MTR | Deep intronic MTR variant associated with reduced cleft lip/palate risk via l... | Methylation & Detox | Emerging | |
| rs10925254 | MTR | Deep intronic MTR variant associated with reduced cleft lip/palate risk via l... | Methylation & Detox | Emerging | |
| rs10925260 | MTR | Intronic MTR variant associated with altered methionine synthase expression a... | Methylation & Detox | Emerging | |
| rs11545076 | GGH -124T>G | Promoter variant that increases GGH expression, accelerating hydrolysis of in... | Methylation & Detox | Moderate | |
| rs234709 | CBS | Intronic CBS variant that tags the CBS locus in GWAS studies; associated with... | Vitamins & Nutrient Absorption | Moderate | |
| rs482843 | CTH | Intronic CTH variant where GG homozygotes show significantly elevated preecla... | Blood Pressure & Hypertension | Moderate | |
| rs1532268 | MTRR MTRR S175L | Missense variant in methionine synthase reductase that raises homocysteine wh... | Methylation & Detox | Moderate | |
| rs3760775 | FUT6 | Near-gene regulatory variant near FUT6 that reduces fucosyltransferase expres... | Vitamins & Nutrient Absorption | Moderate | |
| rs162036 | MTRR K350R (Lys350Arg) | MTRR cobalamin-reactivation variant — reduces B12 recycling efficiency and mo... | Methylation & Detox | Moderate | |
| rs162040 | MTRR | Intronic MTRR tag SNP in a haplotype block where the C-allele variant associa... | Methylation & Detox | Emerging | |
| rs162049 | MTRR | Intronic MTRR variant associated with reduced enzyme expression and impaired ... | Methylation & Detox | Emerging | |
| rs1800909 | GGH c.16T>C (p.Cys6Arg) | Signal-peptide missense variant that alters GGH subcellular targeting; C alle... | Methylation & Detox | Moderate | |
| rs4654748 | NBPF3 | Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common geneti... | Vitamins & Nutrient Absorption | Strong | |
| rs1801131 | MTHFR A1298C | Second MTHFR variant affecting enzyme activity in the regulatory domain | Methylation & Detox | Moderate | |
| rs5749131 | TCN2 | Upstream regulatory variant near TCN2 associated with reduced holotranscobala... | Vitamins & Nutrient Absorption | Moderate | |
| rs1801133 | MTHFR C677T | Key enzyme for converting folate to its active methylfolate form | Methylation & Detox | Established | |
| rs5753231 | TCN2 TCN2 2KB Upstream Variant | Promoter-proximal upstream variant in TCN2 that increases transcobalamin II p... | Vitamins & Nutrient Absorption | Emerging | |
| rs1801181 | CBS A360A | A synonymous variant in CBS affecting homocysteine metabolism and associated ... | Methylation & Detox | Moderate | |
| rs602662 | FUT2 Gly258Ser | Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorri... | Vitamins & Nutrient Absorption | Strong | |
| rs1801394 | MTRR A66G | B12 recycling enzyme — regenerates active B12 for the methylation cycle | Methylation & Detox | Moderate | |
| rs6922269 | MTHFD1L | Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs1802059 | MTRR | Synonymous MTRR variant (c.1911G>A) associated with congenital heart disease ... | Methylation & Detox | Emerging | |
| rs2325751 | PNPO | Regulatory variant 2 kb upstream of PNPO that may alter expression of the vit... | Hormones & Sleep | Emerging | |
| rs1805087 | MTR A2756G | Methionine synthase — uses B12 to convert homocysteine to methionine | Methylation & Detox | Moderate | |
| rs202676 | FOLH1 T484A | Reduces intestinal folate hydrolase activity, impairing absorption of dietary... | Methylation & Detox | Moderate | |
| rs202720 | FOLH1 | Intronic variant in the intestinal folate-cleaving enzyme FOLH1 (GCPII); the ... | Methylation & Detox | Emerging | |
| rs2073067 | MTHFD1L MTHFD1L variant | Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ... | Methylation & Detox | Moderate | |
| rs2236224 | MTHFD1 MTHFD1 R653Q | Intronic tag variant in MTHFD1 in strong LD with the R653Q missense variant, ... | Methylation & Detox | Moderate | |
| rs2275565 | MTR IVS (intronic) | Intronic MTR variant associated with elevated homocysteine and B12-dependent ... | Methylation & Detox | Moderate | |
| rs234706 | CBS C699T | Common synonymous variant in the CBS gene associated with reduced cardiovascu... | Methylation & Detox | Moderate | |
| rs2838956 | SLC19A1 RFC1 intronic variant | Intronic SLC19A1 variant that tags a haplotype affecting reduced folate carri... | Methylation & Detox | Emerging | |
| rs326124 | MTRR | Intronic MTRR variant associated with colorectal cancer survival in interacti... | Methylation & Detox | Emerging | |
| rs3733890 | BHMT R239Q | Missense variant in betaine-homocysteine methyltransferase that reduces enzym... | Methylation & Detox | Moderate | |
| rs3776455 | MTRR | Intronic MTRR variant associated with altered folate-pathway cancer risk and ... | Methylation & Detox | Emerging | |
| rs3776467 | MTRR | Intronic MTRR variant with sex-specific association with DNA methylation patt... | Methylation & Detox | Emerging | |
| rs3788200 | SLC19A1 SLC19A1 intron 2 variant | Intronic SLC19A1 tag variant in strong LD with the G80A folate-transporter co... | Methylation & Detox | Moderate | |
| rs3788205 | SLC19A1 SLC19A1 intronic variant | Intronic marker in the folate transporter gene; tags SLC19A1 haplotype variat... | Methylation & Detox | Emerging | |
| rs4659744 | MTR MTR variant | Intronic MTR variant that tags the folate/B12-dependent remethylation locus a... | Methylation & Detox | Emerging | |
| rs567754 | BHMT BHMT-02 | Intronic variant in betaine-homocysteine methyltransferase gene associated wi... | Methylation & Detox | Moderate | |
| rs606231425 | MMACHC | Pathogenic missense variant in the cobalamin-processing enzyme; homozygosity ... | Methylation & Detox | Strong | |
| rs61886492 | FOLH1 H475Y | Reduces intestinal GCPII enzyme activity by 53%, paradoxically raising circul... | Methylation & Detox | Strong | |
| rs819147 | AHCY | Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf... | Methylation & Detox | Moderate | |
| rs914232 | SLC19A1 RFC1 -43T>C | Regulatory variant that reduces reduced folate carrier protein expression, im... | Methylation & Detox | Moderate |