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rs1426654 SLC24A5

SLC24A5 Thr111Ala. Lighter skin pigmentation variant. Nearly fixed in European populations.

Curated · human-reviewed Ancestry · Risk / effect allele: A · dbSNP

What is rs1426654?

rs1426654 is a single-nucleotide polymorphism (SNP) in the SLC24A5 gene (Solute carrier family 24 member 5 (skin pigmentation)). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as AA. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1426654 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAtypical / lowerSLC24A5 Thr111Ala. Lighter skin pigmentation variant. Nearly fixed in European populations.92%
AG / GAtypical / lowerHeterozygous. Mixed ancestry signal for skin pigmentation.78%
GGtypical / lowerAncestral SLC24A5 variant. Common in African and East Asian populations.90%

How common is the A allele of rs1426654?

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

European99.9%
East Asian0.1%
African1.0%
South Asian60.0%
Admixed American55.0%
Global40.0%

Is rs1426654 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.