Nutrient Genetics

SNP Prevalence and Clinical References

This page provides prevalence data for the individual SNPs among different ethnicities along with clinical references that show the risk associations. 

rs12934922
Two common single nucleotide polymorphisms in the gene encoding β-carotene 15,15′-monoxygenase alter β-carotene metabolism in female volunteers
Single Nucleotide Polymorphisms Upstream from the β-Carotene 15,15'-Monoxygenase Gene Influence Provitamin A Conversion Efficiency in Female Volunteers
Diet in vitamin A research
rs1667255
Alcohol Drinking Obliterates the Inverse Association Between Serum Retinol and Risk of Head and Neck Cancer
Disproportionate Vitamin A Deficiency in Women of Specific Ethnicities Linked to Differences in Allele Frequencies of Vitamin A-Related Polymorphisms
Diet in vitamin A research
rs6564851
Single Nucleotide Polymorphisms Upstream from the β-Carotene 15,15'-Monoxygenase Gene Influence Provitamin A Conversion Efficiency in Female Volunteers
SNP rs6564851 in the BCO1 Gene Is Associated with Varying Provitamin a Plasma Concentrations but Not with Retinol Concentrations among Adolescents from Rural Ghana
Diet in vitamin A research
rs7501331
Two common single nucleotide polymorphisms in the gene encoding β-carotene 15,15′-monoxygenase alter β-carotene metabolism in female volunteers
Single Nucleotide Polymorphisms Upstream from the β-Carotene 15,15'-Monoxygenase Gene Influence Provitamin A Conversion Efficiency in Female Volunteers
Diet in vitamin A research
rs11645428
Single Nucleotide Polymorphisms Upstream from the β-Carotene 15,15'-Monoxygenase Gene Influence Provitamin A Conversion Efficiency in Female Volunteers
Diet in vitamin A research
rs17514104
Genetic Implication of a Novel Thiamine Transporter in Human Hypertension
Dietary Intake and Food Sources of Niacin, Riboflavin, Thiamin and Vitamin B₆ in a Representative Sample of the Spanish Population. The Anthropometry, Intake, and Energy Balance in Spain (ANIBES) Study
rs13078881
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
Dietary Intake and Food Sources of Niacin, Riboflavin, Thiamin and Vitamin B₆ in a Representative Sample of the Spanish Population. The Anthropometry, Intake, and Energy Balance in Spain (ANIBES) Study
rs492602
Common variants of FUT2 are associated with plasma vitamin B12 levels
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation
Dietary Intake and Food Sources of Niacin, Riboflavin, Thiamin and Vitamin B₆ in a Representative Sample of the Spanish Population. The Anthropometry, Intake, and Energy Balance in Spain (ANIBES) Study
rs526934
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway
Dietary Intake and Food Sources of Niacin, Riboflavin, Thiamin and Vitamin B₆ in a Representative Sample of the Spanish Population. The Anthropometry, Intake, and Energy Balance in Spain (ANIBES) Study
rs602662
An update on vitamin B12-related gene polymorphisms and B12 status
Dietary Intake and Food Sources of Niacin, Riboflavin, Thiamin and Vitamin B₆ in a Representative Sample of the Spanish Population. The Anthropometry, Intake, and Energy Balance in Spain (ANIBES) Study
rs33972313
Vitamin C transporter gene (SLC23A1 and SLC23A2) polymorphisms, plasma vitamin C levels, and gastric cancer risk in the EPIC cohort
Vitamin C in disease prevention and cure: an overview
rs4257763
Vitamin C Transporter Gene Polymorphisms, Dietary Vitamin C and Serum Ascorbic Acid
Vitamin C in disease prevention and cure: an overview
rs6139591
Vitamin C Transporter Gene Polymorphisms, Dietary Vitamin C and Serum Ascorbic Acid
Vitamin C in disease prevention and cure: an overview
rs6596473
Vitamin C Transporter Gene Polymorphisms, Dietary Vitamin C and Serum Ascorbic Acid
Vitamin C in disease prevention and cure: an overview
rs10741657
Effects of CYP2R1 gene variants on vitamin D levels and status: A systematic review and meta-analysis
Vitamin D in foods and as supplements
rs2282679
Association among genetic variants in the vitamin D pathway and circulating 25-hydroxyvitamin D levels in Korean adults: results from the Korea National Health and Nutrition Examination Survey 2011-2012
Association of rs2282679 polymorphism in vitamin D binding protein gene (GC) with the risk of vitamin D deficiency in an iranian population: season-specific vitamin D status
Genetic Variation of the Vitamin D Binding Protein Affects Vitamin D Status and Response to Supplementation in Infants
Vitamin D in foods and as supplements
rs12785878
Vitamin D in foods and as supplements
rs10766197
Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study
Effects of genetic polymorphisms in Vitamin D metabolic pathway on Vitamin D level and asthma control in South Indian patients with bronchial asthma
Supplemental 25-Hydroxycholecalciferol Is More Effective than Cholecalciferol in Raising Serum 25-Hydroxyvitamin D Concentrations in Older Adults
rs10877012
Single Nucleotide Polymorphisms in 25-Hydroxyvitamin D3 1-Alpha-Hydroxylase (CYP27B1) Gene: The Risk of Malignant Tumors and Other Chronic Diseases
The Association between Polymorphisms of Vitamin D Metabolic-Related Genes and Vitamin D3 Supplementation in Type 2 Diabetic Patients
Vitamin D in foods and as supplements
Genetic and Environmental Determinants of 25-Hydroxyvitamin D and 1,25-Dihydroxyvitamin D Levels in Hispanic and African Americans
Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene
rs12272004
Common Variation in the β-Carotene 15,15′-Monooxygenase 1 Gene Affects Circulating Levels of Carotenoids: A Genome-wide Association Study
Genetic Variations Involved in Vitamin E Status
Vitamin E inadequacy in humans: causes and consequences
rs2108622
CYP4F2 Is a Vitamin K1 Oxidase: An Explanation for Altered Warfarin Dose in Carriers of the V433M Variant
A Haplotype of the CYP4F2 Gene is Associated With Cerebral Infarction in Japanese Men
Vitamin K as a Diet Supplement with Impact in Human Health: Current Evidence in Age-Related Diseases
rs1801131
Genetic polymorphisms of key enzymes in folate metabolism affect the efficacy of folate therapy in patients with hyperhomocysteinaemia
Association of MTHFR C677T (rs1801133) and A1298C (rs1801131) Polymorphisms with Serum Homocysteine, Folate and Vitamin B12 in Patients with Young Coronary Artery Disease
Associations of Maternal rs1801131 Genotype in MTHFR and Serum Folate and Vitamin B12 with Gestational Diabetes Mellitus in Chinese Pregnant Women
rs1801133
Association of MTHFR C677T (rs1801133) and A1298C (rs1801131) Polymorphisms with Serum Homocysteine, Folate and Vitamin B12 in Patients with Young Coronary Artery Disease
Association analysis of MTHFR (rs1801133 and rs1801131) and MTRR (rs1801394) gene polymorphisms towards the development of hypertension in the Bai population from Yunnan, China
Dietary Intake and Food Sources of Niacin, Riboflavin, Thiamin and Vitamin B₆ in a Representative Sample of the Spanish Population. The Anthropometry, Intake, and Energy Balance in Spain (ANIBES) Study
rs775607037
Primary Coenzyme Q10 Deficiency Overview
Influence of Diets with Varying Essential/Nonessential Amino Acid Ratios on Mouse Lifespan
rs786204770
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
Influence of Diets with Varying Essential/Nonessential Amino Acid Ratios on Mouse Lifespan
rs3877899
Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women
Dietary Trace Minerals
rs1050450
Genetic variants in selenoprotein genes modulate biomarkers of selenium status in response to Brazil nut supplementation (the SU.BRA.NUT study)
GPx1 rs1050450 Polymorphism Modulates Selenium Status and Glutathione Peroxidase 1 Activity in Children with Autism Spectrum Disorder: A Case-Control Study from Western Algeria
Dietary Trace Minerals
rs2304478
Polymorphisms in the SLC12A3 Gene Encoding Sodium-Chloride Cotransporter are Associated with Hypertension: A Family-Based Study in the Mongolian Population
Dietary Trace Minerals
rs7204044
Polymorphisms in the SLC12A3 Gene Encoding Sodium-Chloride Cotransporter are Associated with Hypertension: A Family-Based Study in the Mongolian Population
Dietary Trace Minerals
Genetic diet interactions of ACE: the increased hypertension predisposition in the Latin American population
rs4516035
Polymorphisms Contributing to Calcium Status: A Systematic Review
Dietary Trace Minerals
rs11126936
SLC30A3 and SEP15 gene polymorphisms influence the serum concentrations of zinc and selenium in mature adults
Association of SNPs in genes encoding zinc transporters on blood zinc levels in humans
Dietary Trace Minerals
rs13107325
Polymorphisms in Manganese Transporters SLC30A10 and SLC39A8 Are Associated With Children's Neurodevelopment by Influencing Manganese Homeostasis
Metal Transporter Gene SLC39A8 Polymorphism rs13107325 and Dietary Manganese Intake Are Associated with Measures of Cardiovascular Disease Risk in a UK Biobank Population Cohort
Dietary Reference Intakes for Vitamin A, Vitamin K, Arsenic, Boron, Chromium, Copper, Iodine, Iron, Manganese, Molybdenum, Nickel, Silicon, Vanadium, and Zinc.
rs1799945
Genetic factors influencing ferritin levels in 14,126 blood donors: results from the Danish Blood Donor Study
Dietary Trace Minerals
rs1800562
Genetic factors influencing ferritin levels in 14,126 blood donors: results from the Danish Blood Donor Study
Serum Ferritin in Women With HFE p.C282Y Homozygosity: Positive Associations With Age, Live Births, Menopause, and Transferrin Saturation
Dietary Trace Minerals
rs3811647
Common Variants and Haplotypes in the TF, TNF-α, and TMPRSS6 Genes Are Associated with Iron Status in a Female Black South African Population1, 2, 3
Transferrin (rs3811647) gene polymorphism in iron deficiency anemia
Dietary Trace Minerals
rs4820268
Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population
Dietary Trace Minerals
rs855791
Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population
The TMPRSS6 variant (SNP rs855791) affects iron metabolism and oral iron absorption – a stable iron isotope study in Taiwanese women
Dietary Trace Minerals
Early life adversity and cardiovascular responses to repeated stress among adolescents: Moderating role of COMT gene rs4680 polymorphism
rs76151636
Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions
rs4284505
Single nucleotide polymorphism rs4284505 in microRNA17 and risk of dental fluorosis
rs225014
Effect of DIO2 Gene Polymorphism on Thyroid Hormone Levels and Its Correlation with the Severity of Schizophrenia in a Pakistani Population
rs594445
The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder
rs4074995
GCH1 Haplotype Determines Vascular and Plasma Biopterin Availability in Coronary Artery Disease: Effects on Vascular Superoxide Production and Endothelial Function
Dietary Trace Minerals
rs5030853
Common Genetic Variants Alter Metabolism and Influence Dietary Choline Requirements
Influence of Diets with Varying Essential/Nonessential Amino Acid Ratios on Mouse Lifespan
rs8007267
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies
Influence of Diets with Varying Essential/Nonessential Amino Acid Ratios on Mouse Lifespan
Common Genetic Variants Alter Metabolism and Influence Dietary Choline Requirements
Influence of Diets with Varying Essential/Nonessential Amino Acid Ratios on Mouse Lifespan
rs121909307
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies
Influence of Diets with Varying Essential/Nonessential Amino Acid Ratios on Mouse Lifespan
Activity of glutathione S-transferase and its π isoenzyme in the context of single nucleotide polymorphism in the GSTP1 gene (rs1695) and tobacco smoke exposure in the patients with acute pancreatitis and healthy subjects
rs5030853
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
rs291466
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin
rs121918252
Homology modeling of human methylmalonyl-CoA mutase: A structural basis for point mutations causing methylmalonic aciduria
rs3733890
Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
Influence of Diets with Varying Essential/Nonessential Amino Acid Ratios on Mouse Lifespan