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rs1815739 ACTN3

ACTN3 R577R. Full alpha-actinin-3 expression; favors sprint/power performance.

Curated · human-reviewed Trait · Risk / effect allele: T · dbSNP

What is rs1815739?

rs1815739 is a single-nucleotide polymorphism (SNP) in the ACTN3 gene (Alpha-actinin-3). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as CC. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1815739 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
CCtypical / lowerACTN3 R577R. Full alpha-actinin-3 expression; favors sprint/power performance.88%
CT / TCtypical / lowerACTN3 R577X heterozygous. Mixed muscle fiber type; balanced athletic profile.85%
TTtypical / lowerACTN3 X577X. No alpha-actinin-3; may favor endurance over sprint performance.88%

How common is the T allele of rs1815739?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European42.0%
East Asian25.0%
African12.0%
South Asian35.0%
Admixed American35.0%
Global30.0%

Is rs1815739 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.