regulatory variant variant

Aliases

SNVs in Categories 1 and 2, known regulatory variant, regulatory variants

External links

ClinVar

Related entities (4)

Mentioned in (15)

Papers in which this entity is mentioned.

• Specificity, length and luck drive gene rankings in association studies. (2026)
• Functional analysis of cancer-associated germline risk variants. (2025)
• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
• Discovery of regulatory noncoding variants in individual cancer genomes by using cis-X. (2020)
• ASEP: Gene-based detection of allele-specific expression across individuals in a population by RNA sequencing. (2020)
• GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information. (2016)
• RNA splicing is a primary link between genetic variation and disease. (2016)
• The PsychENCODE project. (2015)
• A gene-based association method for mapping traits using reference transcriptome data. (2015)
• 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits. (2014)
• Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. (2014)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Annotation of functional variation in personal genomes using RegulomeDB. (2012)
• Genetics of psychiatric disorders methods: molecular approaches. (2010)

Merged raw entities (4)

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.