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Not all SNPs identified by genome-wide association studies (GWAS) are functional in disease pathogenesis.

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SUPPORTED
the evidence backs this
Recorded sources
4 sources for · 0 against

Counts group repeated records of the same source within each side. They do not measure evidence strength or source independence.

Is it true that not all SNPs identified by genome-wide association studies (GWAS) are functional in disease pathogenesis?

Yes. Genome-wide association studies (GWAS) routinely identify statistical risk variants, but many reside in non-coding regions or act as markers rather than causal elements, requiring downstream functional annotation and multi-omics analysis to confirm their biological roles.

Verdict: SUPPORTED · 4 sources for, 0 against · Last checked

Evidence for · 4
miRNA-dependent target regulation: functional characterization of single-nucleotide polymorphisms identified in genome-wide association studies of Alzheimer’s disease
2016
Identifies specific functional polymorphisms within Alzheimer's disease GWAS loci that impact miRNA-mediated gene expression.
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Delay, C., Grenier-Boley, B., Amouyel, P., Dumont, J., & Lambert, J. (2016). miRNA-dependent target regulation: functional characterization of single-nucleotide polymorphisms identified in genome-wide association studies of Alzheimer’s disease. doi.org. https://doi.org/10.1186/s13195-016-0186-x

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More for · 3
Functional Annotation of Alzheimer's Disease-Associated SNPs Based on Three-Dimensional Chromatin Structure.
2026
Notes that many GWAS loci reside in non-coding regions and require integrative computational frameworks to identify true effector genes.
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H, L., Z, W., X, L., & X, S. (2026). Functional Annotation of Alzheimer's Disease-Associated SNPs Based on Three-Dimensional Chromatin Structure.. doi.org. https://doi.org/10.3390/ijms27188396

Integrative post-GWAS analysis prioritizes immune regulatory pathways and candidate effector signals in systemic lupus erythematosus.
2026
Highlights the challenge of translating polygenic GWAS signals into functionally validated candidate genes and regulatory mechanisms in SLE.
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V, M., M, K., N, P., SL, S., P, L., & A, S. (2026). Integrative post-GWAS analysis prioritizes immune regulatory pathways and candidate effector signals in systemic lupus erythematosus.. doi.org. https://doi.org/10.1016/j.jtauto.2026.100399

Decoding Primary Open-Angle Glaucoma: A Multi-Omics Approach to Identify Druggable Effector Genes.
2026
Explains that most primary open-angle glaucoma risk loci from GWAS reside in non-coding regions with unclear function, requiring multi-omics mapping.
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J, G., Y, Y., H, L., Y, N., X, L., J, L., S, L., Y, Q., M, B., X, S., Z, Z., D, P., H, W., AP, K., M, H., Y, H., & H, Z. (2026). Decoding Primary Open-Angle Glaucoma: A Multi-Omics Approach to Identify Druggable Effector Genes.. doi.org. https://doi.org/10.1167/iovs.67.11.19

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