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openSNP specifications


Unique identifier OMICS_08087
Name openSNP
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline openSNP

Publication for openSNP

openSNP citations


UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population

PMCID: 5651473
PMID: 29085579
DOI: 10.22038/IJBMS.2017.9109
call_split See protocol

[…] An in silico analysis was performed on the poly-morphic markers in the UGT1A1 gene region, which were reported in databases dbSNP, ALFRED, UCSC Genome Browser, SNPper and openSNP. The mar-kers with high minor allele frequency (MAF) and heterozygosity including rs4124874 and rs4148326 were selected. MAF and heterozygosity rate are two important characteristics of geneti […]


Translational Bioinformatics: Past, Present, and Future

PMCID: 4792852
PMID: 26876718
DOI: 10.1016/j.gpb.2016.01.003

[…] er raw genomic data and to use information from other websites to interpret the results, including Promethease (, Geneticgenie (, openSNP (, and Interpretome ( for health-related associations.Another important question raised by DTC genetic testing include whether the consumers are r […]


Pharmacogenomic knowledge representation, reasoning and genome based clinical decision support based on OWL 2 DL ontologies

BMC Med Inform Decis Mak
PMCID: 4340468
PMID: 25880555
DOI: 10.1186/s12911-015-0130-1

[…] (VCF) files [], and two-dimensional barcodes representing pharmacogenomic data as Medicine Safety Codes []. We obtained publicly available patient data in the form of genetic 23andMe V3 profiles from [], manually altering some of the SNP data in order to create a unique, virtual profile, and converting the SNP data into OWL axioms describing the genetic profile of a virtual patient.Fig […]


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openSNP institution(s)
Molecular Ecology Group, Biodiversity and Climate Research Centre, Frankfurt am Main, Germany; Department for Applied Bioinformatics, Institute for Cell Biology and Neuroscience, Goethe University, Frankfurt am Main, Germany; School of Land, Crop, and Food Sciences, University of Queensland, Brisbane, Australia; Australian Centre for Plant Functional Genomics, School of Agriculture and Food Sciences, University of Queensland, Brisbane, Australia; Hochschule für Technik und Wirtschaft, Berlin, Germany; Johannes Gutenberg University, Mainz, Germany

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