File: gene_fulltable_06112024.txt.entrez.txt
File Description: All gene-level rare variant associations reported in RAVAR after data cleaning and gene mapping. Downloaded from http://www.ravar.bio/api/download/static/gene_fulltable.txt on June 11, 2024.

Column Descriptions: 
Gene Symbol	Gene symbol reported in RAVAR
Ensembl ID	Ensembl ID reported in RAVAR
Gene Type	Annotated gene type (e.g. protein coding)
CHR	Chromosome containing the gene
Location	Chromosomal position of the gene
Reported Trait	Phenotype reported in RAVAR for the association study
Trait Label	Description of trait mapped by RAVAR
Trait Ontology id	Ontology ID of the trait mapped by RAVAR
EFO synonym	Synonyms for Trait Label
P-value	Association p-value reported in RAVAR
TRAIT_CODE	EFO code assigned after trait-mapping procedure
from	Gene identifier used as the source for the gene mapping procedure
Entrez	NCBI Gene ID assigned after gene mapping procedure
PMID	PMID of the underlying association study

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File: gwas_catalog_Jan29_2025.txt.cleaned.entrez.txt
File Description: All common variant associations reported in the GWAS Catalog after data cleaning and gene mapping. Downloaded from https://www.ebi.ac.uk/gwas/api/search/downloads/alternative on January 19, 2025.

PUBMEDID	PubMed Identifier of the underlying association study 
DATE	Publication date of the underlying association study
DISEASE/TRAIT	Phenotype reported by the underlying association study
MAPPED_GENE	Gene symbol reported by the GWAS Catalog
SNP_GENE_IDS	Ensembl ID for the gene reported by the GWAS Catalog
INTERGENIC	Is the reported SNP in an intergenic region
P-VALUE	Association p-value reported in the GWAS Catalog
OR or BETA	Effect size of the association
MAPPED_TRAIT	Name of the EFO term mapped to DISEASE/TRAIT by the GWAS Catalog
MAPPED_TRAIT_URI	Link to the EFO term mapped to DISEASE/TRAIT by the GWAS Catalog
STUDY ACCESSION	GWAS Catalog accession number for the underlying study
TRAIT_CODE	EFO code assigned after the trait-mapping procedure
logp	Negative log10 transformed association p-value
from	Gene identifier used as the source for the gene mapping procedure
Entrez	NCBI Gene ID assigned after gene mapping procedure
INITIAL SAMPLE SIZE	The initial population sample size of the underlying association study
