SNP

Definition

A Single Nucleotide Polymorphism (SNP) is a variation in a single nucleotide base pair at a specific position in the DNA sequence that occurs in at least 1% of a population. SNPs are the most common type of genetic variation among individuals, with approximately 4-5 million SNPs present in each person's genome. They serve as biological markers for mapping genes associated with disease susceptibility, drug response, and phenotypic traits. SNPs can occur in coding regions (affecting protein structure), regulatory regions (influencing gene expression), or non-coding regions. Understanding SNP patterns is crucial for genome-wide association studies (GWAS), personalized medicine, evolutionary biology, and identifying genetic risk factors for complex diseases.

Visualize SNP in Nodes Bio

Researchers can visualize SNP-gene-disease associations as network graphs in Nodes Bio, connecting polymorphisms to affected genes, regulatory pathways, and phenotypic outcomes. Network analysis reveals how multiple SNPs interact epistatically, identifies hub genes with multiple associated variants, and maps SNP effects across biological pathways. This enables discovery of functional relationships between genetic variants and complex traits through integrated multi-omics networks.

Example Use Case

A pharmacogenomics research team investigating warfarin dosing variability creates a network linking SNPs in CYP2C9 and VKORC1 genes to drug metabolism pathways and patient bleeding outcomes. By visualizing connections between 15 known SNPs, metabolic enzymes, coagulation factors, and adverse event reports from 2,000 patients, they identify a novel SNP combination that explains 12% of previously unexplained dosing variance. The network reveals that patients with specific SNP haplotypes require 30% lower doses, enabling more precise anticoagulation therapy protocols.

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