Last Updated
Current
Description
The genetic Variant is associated with the Symptom.
Properties
combined_method: The statistical procedure used to combine p-values (Fisher).
combined_p_value: The resulting p-value calculated after integrating data from all available sources.
finngen_af_alt: The frequency of the alternative (effect) allele across the entire FinnGen study population.
finngen_af_alt_cases: The frequency of the alternative allele specifically within the "case" group (individuals exhibiting the symptom).
finngen_af_alt_controls: The frequency of the alternative allele within the "control" group (individuals without the symptom).
finngen_alt: The specific nucleotide base(s) representing the alternative (risk) allele.
finngen_beta: The estimated effect size of the variant on the phenotype, typically expressed as the log-odds ratio.
finngen_chrom: The chromosome on which the variant is located.
finngen_mlogp: The negative log10 transformed p-value ($-\log_{10}P$). High values indicate higher statistical significance.
finngen_nearest_genes: The gene(s) located in the immediate genomic proximity of the variant, often used to infer potential functional impact.
finngen_phenocode: The internal alphanumeric code used by FinnGen to categorize the specific phenotype/symptom.
finngen_phenotype: The specific FinnGen-provided descriptor for the trait.
finngen_pos: The specific base-pair coordinate of the variant on the chromosome.
finngen_ref: The reference nucleotide base(s) as found in the standard human genome assembly.
finngen_sebeta: The standard error associated with the beta (effect size) estimate.
max_p_value: The least significant (highest) p-value observed across the different datasets for this association.
mean_finngen_beta: The average effect size (beta) calculated if multiple FinnGen data releases are present for the same variant-symptom pair.
mean_Odds_ratio: The average Odds Ratio calculated across the different data sources.
mean_Odds_ratio_LCI: The average Lower Bound of the 95% Confidence Interval across sources.
mean_Odds_ratio_UCI: The average Upper Bound of the 95% Confidence Interval across sources.
mean_p_values: The arithmetic mean of the p-values across all sources.
min_p_value: The most significant (lowest) p-value observed across the different datasets.
Odds_ratio: The ratio of the odds of the symptom occurring in the presence of the variant versus the odds of it occurring in its absence. Values > 1 indicate an increased risk.
Odds_ratio_LCI: The Lower Bound of the 95% Confidence Interval for the Odds Ratio.
Odds_ratio_UCI: The Upper Bound of the 95% Confidence Interval for the Odds Ratio.
p_values: The significance level(s) of the association between the variant and the symptom.
Phenotype: The clinical description or name of the symptom/trait associated with the variant.
sources: Finngen or AZPHEWAS.