ArticleNature2001
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.
Article in Nature, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 847 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
847 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Association between genetic variants (rs920778, rs4759314, and rs217727) in LncRNAs and cervical cancer susceptibility in Chinese population: A systematic review and meta-analysis.Frontiers in genetics · 2022Pooled it
- Associations of the ABCA1 gene polymorphisms with plasma lipid levels: A meta-analysis.Medicine · 2018Pooled it
- Development and Validation of SNP Markers for Plant Genomic Studies.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Interactions between nutrition and the epigenome: how can it be harnessed for public health?Future science OA · 2026Article
- Association of miRNA (miR-10a, miR-30c, miR-181a, and miR-499b) Polymorphisms and Their Interactions with PAI-1 in Recurrent Implantation Failure in Korean Women.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Cloning of human DING: Developmental expression and downregulation by EtOH in-utero.Archives of internal medicine research · 2026Article
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- nanoASM: Long-Read Allele-Specific DNA Methylation Profiling Enables Functional Annotation of Regulatory Noncoding Variants in Human Prostate Tissues.bioRxiv : the preprint server for biology · 2026Article
- Model-Based Virtual Clinical Trial Reveals Renal Impairment and Body Size as Key Determinants of Pharmacokinetic Variability and Drug-Drug Interaction Risk in Propranolol Therapy.Pharmaceutics · 2026Article
- Strand-seq and the future of personalized genomics.Nature genetics · 2026Review
- Rising Tide of Crustacean Allergies in East Asia: a Comprehensive Review of Genetic Insights and Implications for Early Evaluation of Health Risks.Clinical reviews in allergy & immunology · 2026Review
- CellSNVReg: a multidimensional resource for SNV-mediated regulatory perturbations in single-cell and spatial omics.Nucleic acids research · 2026Article
- Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.PloS one · 2026Article
- Uncovering genetic variations in HTR2A and miRNAs drivers of breast cancer risk in African American women.Journal of breast cancer research · 2026Article
- Nanopore detection of single-nucleotide RNA mutations and modifications with programmable nanolatches.Nature nanotechnology · 2025Article
- Genetic distances and genome wide population structure analysis of a grain amaranth (Amaranthus hypochondriacus) diversity panel using genotyping by sequencing.Scientific reports · 2025Article
- Article
- Off-target effects in CRISPR-Cas genome editing for human therapeutics: Progress and challenges.Molecular therapy. Nucleic acids · 2025Review
- A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).Journal of assisted reproduction and genetics · 2025Article
- Y-Chromosome Genetic Characterization Supports the Establishment of Calving Centered Protected Areas for Tibetan Antelope Conservation.Ecology and evolution · 2025Article
787 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
42 authors.
Funding
Abstract
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases. These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard population genetic model of human history. This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.