phenoscanner

R package to query the PhenoScanner database of human genotype-phenotype associations.

Functions

• phenoscanner: this function allows users to query the PhenoScanner database.

Installation

install.packages("remotes")
remotes::install_github("jrs95/phenoscanner")

Examples

# Library
library(phenoscanner)

# SNP
res <- phenoscanner(snpquery = "rs10840293")
head(res$results)
res$snps

# Gene
res <- phenoscanner(genequery = "SWAP70")
head(res$results)
res$genes

# Region  
res <- phenoscanner(regionquery = "chr11:9685624-9774538")
head(res$results)
res$regions

# Multiple SNPs
res <- phenoscanner(snpquery = c("rs10840293", "rs10"))
head(res$results)
res$snp

Citations

• Staley JR, et al. PhenoScanner: a database of human genotype-phenotype associations. Bioinformatics 2016;32(20):3207-3209.
• Kamat MA, et al. PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. Bioinformatics 2019;35(22):4851-4853.

Terms of use

Please abide by the terms of use of PhenoScanner when using this R package.