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Learn · Variants · PTPN22

rs6679677 PTPN22

Increased risk for rheumatoid arthritis, type 1 diabetes, and other autoimmune conditions.

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

What is rs6679677?

rs6679677 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 rs6679677 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAelevatedIncreased risk for rheumatoid arthritis, type 1 diabetes, and other autoimmune conditions.88%
AG / GAslightly elevatedModerately increased autoimmune disease risk.85%
GGtypical / lowerTypical autoimmune risk.88%

How common is the A allele of rs6679677?

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

European10.0%
East Asian0.1%
African1.0%
South Asian2.0%
Admixed American5.0%
Global4.0%

Is rs6679677 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.