Research
Tag

Folate

37 genetic variants with this tag.

RSID Gene Description Category
rs10380 MTRR His595Tyr Missense variant in methionine synthase reductase that impairs B12 reactivati... Methylation & Detox Moderate
rs1051266 SLC19A1 G80A (His27Arg) Folate transporter — how well folate gets into your cells Methylation & Detox Moderate
rs1051296 SLC19A1 SLC19A1 variant (RFC1) 3'UTR variant in the reduced folate carrier that affects miR-595 binding, alt... Methylation & Detox Moderate
rs1051298 SLC19A1 SLC19A1 3'UTR variant (c.*746C>T) 3'UTR variant in the folate transporter gene affecting pemetrexed toxicity ri... Methylation & Detox Moderate
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
rs11627387 MTHFD1 Intronic variant in the cytoplasmic trifunctional folate enzyme MTHFD1, assoc... Methylation & Detox Moderate
rs12659 SLC19A1 Synonymous variant in the folate transporter SLC19A1 — a haplotype tag linked... Methylation & Detox Emerging
rs13420827 DNMT3A 3' UTR variant in the de novo DNA methyltransferase DNMT3A, associated with a... Methylation & Detox Emerging
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
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
rs1801131 MTHFR A1298C Second MTHFR variant affecting enzyme activity in the regulatory domain Methylation & Detox Moderate
rs1801133 MTHFR C677T Key enzyme for converting folate to its active methylfolate form Methylation & Detox Established
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
rs61735836 FTCD Missense variant in the FTCD enzyme that impairs one-carbon unit transfer fro... Vitamins & Nutrient Absorption Strong
rs1979277 SHMT1 C1420T Alters one-carbon metabolism and folate distribution; influences cancer risk,... 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
rs2236225 MTHFD1 G1958A Folate processing enzyme — reduced stability increases choline need Methylation & Detox Strong
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
rs3776455 MTRR Intronic MTRR variant associated with altered folate-pathway cancer risk and ... Methylation & Detox Emerging
rs3788189 SLC19A1 SLC19A1 IVS2 variant Intronic variant in the folate transporter gene associated with pemetrexed tr... 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
rs61886492 FOLH1 H475Y Reduces intestinal GCPII enzyme activity by 53%, paradoxically raising circul... Methylation & Detox Strong
rs7946 PEMT Val175Met Phosphatidylcholine production — affects dietary choline requirements Methylation & Detox Strong
rs828903 MTHFD2 Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-c... Methylation & Detox Moderate
rs914232 SLC19A1 RFC1 -43T>C Regulatory variant that reduces reduced folate carrier protein expression, im... Methylation & Detox Moderate