missense variants variant

Aliases: NonSyn, missense mental retardation–causing variant, missense variants, putative disease-causing missense variant, single-base substitution missense variants
External links: ClinVar

Evidence from: primary | all sources

Related entities (8)

Subject	Relation	Object	p-value	Evidence
1000 Genomes Project	associated_with	missense variants	—	1
individuals	associated_with	missense variants	—	1
missense variants	risk_factor_for	mental retardation	—	1
missense variants	associated_with	mental retardation	—	1
missense variants	associated_with	OCD	—	1
missense variants	associated_with	population differentiation	—	1
missense variants	associated_with	SNVs	—	1
rare variant	associated_with	missense variants	—	1

Mentioned in (25)

Papers in which this entity is mentioned.

Specificity, length and luck drive gene rankings in association studies. (2026)
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. (2025)
Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (2024)
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. (2024)
Variant interpretation using population databases: Lessons from gnomAD. (2022)
Mapping genomic loci implicates genes and synaptic biology in schizophrenia. (2022)
Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease. (2021)
Pan-cancer landscape of homologous recombination deficiency. (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
Identification of common genetic risk variants for autism spectrum disorder. (2019)
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. (2017)
A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
De novo variants in sporadic cases of childhood onset schizophrenia. (2016)
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). (2016)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. (2016)
The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
SEQMINER: An R-Package to Facilitate the Functional Interpretation of Sequence-Based Associations. (2015)
Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
An integrated map of genetic variation from 1,092 human genomes. (2012)
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. (2012)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (2009)
Common and rare variants in multifactorial susceptibility to common diseases. (2008)

Merged raw entities (8)

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
missense variant	variant	15	25
missense variants	variant	14	24
nonsynonymous variant	variant	4	5
nonsynonymous variants	variant	2	3
missense mental retardation–causing variant	variant	—	—
nonsyn	variant	—	—
putative disease-causing missense variant	variant	—	—
single-base substitution missense variants	variant	—	—