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Single Nucleotide Polymorphism (SNP)

Definition

A position in the genome where a single nucleotide varies between individuals. Consumer DTC genomic tests genotype hundreds of thousands of SNPs; SNP profiles are used in IGG because they can be compared across consumer databases in a way that CODIS STR profiles cannot.

Definition
A genome position where a single base varies between individuals
Typical DTC test scale
Genotypes hundreds of thousands of SNPs
Forensic use
Investigative genetic genealogy (IGG)
Contrast
Not directly comparable to CODIS STR profiles

Common questions

Why are SNPs used for genetic genealogy instead of the STR markers used in CODIS?+

Consumer genealogy databases like GEDmatch store SNP profiles from direct-to-consumer testing kits, and SNP data supports the distant-relative matching genealogy relies on, while CODIS STR profiles use a different marker system that those databases cannot compare against.

Does SNP-based genealogy searching raise different privacy concerns than STR profiling?+

Yes, because a SNP profile can reveal relatives several generations removed and traits beyond identity, it exposes far more relatives and personal information per search than a CODIS STR comparison, which is why consumer database policies on law enforcement access are closely scrutinized.

Related terms

Barbara Rae-Venter
The genetic genealogist who led the family-tree reconstruction in the Golden State Killer investigation. Previously used the same technique to identify an...
Centimorgans (cM)
The unit of genetic map distance used to measure shared DNA between individuals. A first-degree relative shares approximately 2,550 cM; a third...
CODIS
The FBI's Combined DNA Index System, the US national STR-based forensic DNA database. Contains profiles from convicted offenders, arrestees, and unidentified crime-scene...
ForenSeq Kintelligence
A Verogen (formerly Illumina) forensic SNP genotyping kit targeting approximately 10,000 kinship-informative SNPs, designed to generate profiles compatible with consumer genealogy databases...
GEDmatch
A consumer genealogy database founded in 2010, used in the Golden State Killer investigation. Changed from opt-out to opt-in for law-enforcement access...
Genetic Genealogist
A specialist who combines DNA match data with traditional genealogical record research to reconstruct family trees. In forensic IGG casework, the genetic...
Investigative Genetic Genealogy (IGG)
A forensic identification technique that uploads a crime-scene DNA profile to a consumer genealogy database, identifies partial matches suggesting distant family relationships,...
Opt-in Policy
The GEDmatch policy adopted in May 2019 requiring database users to affirmatively consent for their profile to be visible in law-enforcement queries,...
Parabon NanoLabs
A US company that became the primary commercial provider of forensic IGG casework following the Golden State Killer case, offering the Snapshot...

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