functional variant variant
Evidence from:
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all sources
Related entities (3)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| functional variant | risk_factor_for | addiction | — | 1 |
| functional variant | associated_with | Caucasians | — | 1 |
| functional variant | risk_factor_for | complex diseases | — | 1 |
Mentioned in (14)
Papers in which this entity is mentioned.
- Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
- Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease. (2022)
- Interpretation of risk loci from genome-wide association studies of Alzheimer's disease. (2020)
- Germline variants associated with leukocyte genes predict tumor recurrence in breast cancer patients. (2019)
- A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism. (2015)
- GABRA2 Alcohol Dependence Risk Allele is Associated with Reduced Expression of Chromosome 4p12 GABAA Subunit Genes in Human Neural Cultures. (2015)
- SEQMINER: An R-Package to Facilitate the Functional Interpretation of Sequence-Based Associations. (2015)
- Gene expression in the addicted brain. (2014)
- 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits. (2014)
- Computational approaches to identify functional genetic variants in cancer genomes. (2013)
- Annotation of functional variation in personal genomes using RegulomeDB. (2012)
- Evolution and functional impact of rare coding variation from deep sequencing of human exomes. (2012)
- Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (2009)
- Common and rare variants in multifactorial susceptibility to common diseases. (2008)
Merged raw entities (2)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| functional variants | variant | 8 | 8 |
| functional variant | variant | 6 | 7 |