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Single Nucleotide Polymorphism (SNP)

Definition
AI-generated

A SNP is a DNA polymorphism where alternate alleles differ by a single nucleotide at one genomic position.

Topics
Core genetics
Plural
SNPs
Related
Allele Common Variant Minor Allele Frequency (MAF)

Why it matters in GWAS

GWAS summary statistics, LD references, and PRS weights are usually SNP-centric; labeling (rs ID, REF/ALT, strand) must be consistent when merging cohorts or annotation tracks.

Example usage

"After QC we retained 8.2M autosomal SNPs with MAF > 1% for association testing."

Allele Common Variant Minor Allele Frequency (MAF) Minor Allele Count (MAC) Genome-Wide Association Study (GWAS) GWAS Summary Statistics Linkage Disequilibrium (LD) Single Nucleotide Variant (SNV)
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

← SMRT sequencing SNP Heritability →

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