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Description
The genetic Variant is associated with the Disease.
Properties
ClinicalSignificance - Clinical significance Read more >>>
alt_allele - ClinVar Any base(s), other than the reference, that is found at that locus
collection_method - Collection type(s): case-control, clinical testing, curation, in vitro, in vivo, literature only, not provided, phenotyping only, provider interpretation, reference population, and/or research
confidence_score - The confidence score is a measure of how likely it is that a variant is truly associated with a trait
p_value - GWAS Catalog p-value
p_value_mlog - GWAS Catalog -log10 p-value
pubmed - PubMed ids
ref_allele - The most common allele
risk_allele - GWAS Catalog Any base(s), other than the reference, that is found at that locus
source - ClinVar or GWAS Catalog
Updates
V5 444,121 edges
V4 441,280 nodes