Association Signal versus Causal Variant under Linkage Disequilibrium

The pivot concept of the path, stated as its own node so it can be tested directly at analyze and evaluate levels.

Questions this Concept answers

Why is the lead SNP rarely the causal variant itself?

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Distinguishing SNPs from SNVs in Genome-Wide Association Studies

A single nucleotide polymorphism (SNP) and a single nucleotide variant (SNV) both describe a position where an individual's DNA differs from a reference sequence at one base; technically, an SNP is d…