Glossary
| Column / Element Name | Description |
|---|---|
| NHLBIkey | Unique key for NHLBI GRASP db (concatenation of PMID with row # in database) |
| Snp_id_current | Latest snp ID from dbSNP, it can be different from the original SNP entry in the database due to SNPmerges (merged = 1) |
| Pvalue | P-value for SNP-phenotype association |
| Phenotype | Phenotype description of SNP-phenotype entry |
| PMID | PubMed identifier for paper from which the SNP association originates |
| LocationWithinPaper | Place where SNP-phenotype result is located within paper (e.g., specific Table, Figure, text or Supplemental text, or extracted from Full GWAS scan results or other web-posted files) |
| PaperPhenotypeCategories | Categories assigned by NHLBI to the overall phenotype(s) focus of the paper |
| chr(hg19) | Human genome build 19 chromosome location of SNP |
| pos(hg19) | Human genome build 19 chromosomal position of SNP |
| InGene | Is the SNP entry within a transcribed region of 1 or more RefSeq protein coding genes? |
| dbSNPMAF | What is the global minor allele frequency (GMAF) for the given allele in dbSNP |
| dbSNPalleles/het/se | Observed dbSNP alleles, overall het +/- s.e. |
| dbSNPvalidation | Does SNP have some level of validation in dbSNP? |
| dbSNPClinStatus | Has dbSNP annotated SNP for clinical relevance? |
| Functional_class | Functional class(es) for SNP provided via dbGaP |
| ORegAnno | Is the SNP within a literature-derived functional regulatory region (ORegAnno database)? |
| ConservPredTFBS | Cross-mammal conserved predicted transcription factor binding sites from Hidden Markov Models (z-scores >= 3.0) |
| HumanEnhancer | Is the SNP within a positively validated human enhancer region (from the VistaEnhancers dataset)? |
| RNAEdit | Is the SNP within an RNA editing site from the DARNED database? |
| InLincRNA | Is the SNP entry within a transcribed region of 1 or more long intergenic noncoding RNA? |
| InMiRNA | Is the SNP entry within a transcribed region of 1 or more microRNA? |
| InMiRNABS | Is the SNP within 1 or more predicted microRNA binding site(PolyMiRTS v.2)? |
| PolyPhen | Does the SNP have a prediction result in PolyPhen2? If so, what is the result? |
| SIFT | Does the SNP have a prediction result in SIFT? If so, what is the result? |
| UniProtAnnotation | Is the SNP within an annotated protein functional region from UniProtKB (e.g., post-translational modification protein site, enzyme active site)? |
| Omim_id | OMIM ID(s) for SNP |
| Snp_gene_symbols | Gene symbol from current dbSNP build, semi-colon separated list for a given np_id_current |
| Upstream_gene_symbol | Gene symbol that is left to snp_id_current from the table created from NCBI RefSeq genes at dbGaP group |
| Upstream_gene_distance | Distance for a snp_id_current to a left gene from the table created from NCBI RefSeq genes at dbGaP group |
| Downstream_gene_symbol | Gene symbol that is right to snp_id_current from the table created from NCBI RefSeq genes at dbGaP group |
| Downstream_gene_distance | Distance for a snp_id_current to a right gene from the table created from NCBI RefSeq genes at dbGaP group |
| Intergenic | Based on NCBI RefSeq genes at dbGaP group
|
| PaperPhenotypeDescription | Description of the overall phenotype(s) focus of the paper |
| DatePub | Date of publication (based on either PubMed, NHGRI catalog, or abstracted from paper PDF) |
| Initial Sample Description | Sample size and demographic description for initial stage/discovery GWAS |
| Replication Sample Description | Replication sample size and demographic description (NR = none reported) |
| Platform [SNPs passing QC] | Description of genotyping and/or imputation platform(s) and number of SNP markers (specified or approximated) included in post-QC analyses |
| GWASancestryDescription | Ethnodemographic description of the paper population(s) (e.g., European, Mixed) |
| TotalSamples(discovery+replication) | Total number of analyzed samples in discovery + replication phases |
| TotalDiscoverySamples | Total number of analyzed samples in discovery phase |
| Total replication samples | Total number of analyzed samples in replication phase |
| Journal | Journal where paper was published |
| Exclusively Male/Female | Does the paper include ONLY analyses that are gender-specific? (i.e., all GWAS and/or replication samples are a single gender) |
| IncludesMale/Female Only Analyses | Does the paper include either SOME or ALL analyses that are gender-specific? (i.e., GWAS and/or replication sample is all male or female) |
| LastCurationDate | Last date that this entry was modified |
| CreationDate | Date this entry was created in the database |
| Columns included in full database download ONLY: | |
| HUPfield | NULL field for release date in Entrez |
| SNPid(dbSNP134) | The rsID in dbSNP build134 ("rs" not included) |
| SNPid(in paper) | The rsID or other variant identifier given in the original publication (often but not always equal to the current rsID) |
| Title | Manuscript title |
| (Multiple) Ancestry sample size columns | Sample size counts in discovery and replication for ancestry groups. Where blank assumed to be 0. "Mixed" indicates a mixture of ancestries was reported but the proportion in each group was unclear. "Unspecified" means no ancestry was clearly specified for samples |
| EqtlMethMetabStudy | Indicates if a result is from an eQTL, methylation QTL or metabolomics GWAS (1=yes) and thus not included in web interface queries |