PhenoScanner statistics

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PhenoScanner specifications


Unique identifier OMICS_12200
Name PhenoScanner
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Version 2.0
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline James R. Staley
  • person_outline Adam S Butterworth

Publications for PhenoScanner

PhenoScanner citations


Maternal 5mCpG Imprints at the PARD6G AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent of Origin Expression Effects in Multiple Human Tissues

Front Genet
PMCID: 5838017
PMID: 29545821
DOI: 10.3389/fgene.2018.00036

[…] We queried the PheGenI (Ramos et al., ), e-GRASP (Karim et al., ), PhenoScanner (Staley et al., ), and HaploReg v4.1 (Ward and Kellis, ) web database tools to cross-reference SNPs at the PARD6G-AS1, PWWP2AP1, and GCSAML candidate iDMRs (Dataset : iDMR SNP lookup) wit […]


Insights into the genetics of blood pressure in black South African individuals: the Birth to Twenty cohort

BMC Med Genomics
PMCID: 5773038
PMID: 29343252
DOI: 10.1186/s12920-018-0321-6

[…] -related trait associations found by studying European, Asian and African-American cohorts (Additional file : Table S1). Input of our top associated SNPs into the NHLBI GRASP catalog, v2.0.0.0 [] and PhenoScanner [] revealed one SNP (rs10798391) with a previous marginal association with SBP and DBP in European individuals []. rs10846744, associated with DBP in this study, showed previous associati […]


Genome wide meta analysis associates HLA DQA1/DRB1 and LPA and lifestyle factors with human longevity

Nat Commun
PMCID: 5715013
PMID: 29030599
DOI: 10.1038/s41467-017-00934-5

[…] tatistics for rs4420638 (the most significant SNP overlapping in both studies) were similar: 9.4 and 9.5 for CHARGE and LifeGen, respectively, for the same n, indicating similar overall power.We used PhenoScanner to search for other trait associations with our lead SNPs. Pheno Scanner settings were: rsid, Catalogue = GWAS, p-value cutoff = .001, proxies = 1000 G, r 2 = 0.6.A review of recent liter […]


Ovarian cancer variant rs2072590 is associated with HOXD1 and HOXD3 gene expression

PMCID: 5732737
PMID: 29262571
DOI: 10.18632/oncotarget.21902

[…] ne expression of HOXD1 and HOXD3. In order to investigate this association, we conducted a functional annotation of rs2072590 variant using RegulomeDB (version 1.1) [], HaploReg (version 4.1) [], and PhenoScanner (version 1.1) []. […]


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PhenoScanner institution(s)
Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
PhenoScanner funding source(s)
Supported by the UK Medical Research Council [G66840, G0800270], Pfizer [G73632], British Heart Foundation [SP/09/002], UK National Institute for Health Research Cambridge Biomedical Research Centre, European Research Council [268834], and European Commission Framework Programme 7 [HEALTH-F2-2012-279233].

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