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rs2476601 PTPN22

Homozygous risk allele (A). Associated with: Addisons disease; Alopecia areata; Autoimmune thyroid disease

Imported from SNPedia · not individually reviewed Health risk · Risk / effect allele: A · dbSNP

What is rs2476601?

rs2476601 is a single-nucleotide polymorphism (SNP) in the PTPN22 gene (Protein tyrosine phosphatase non-receptor type 22). 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 rs2476601 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAelevatedHomozygous risk allele (A). Associated with: Addisons disease; Alopecia areata; Autoimmune thyroid disease65%

Is rs2476601 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4. 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.