AllergieseosinophilicEvidence 2BPhysician review

rs869312953 · JAK1

Risk-Allele Phenotype

JAK1 rs869312953 — classified as likely pathogenic; associated with increased risk of Inborn genetic diseases. Strong evidence supports a disease-causing role for this variant.

Reference-Allele Phenotype

Normal JAK1 function at this locus, with no elevated genetic risk contribution to Inborn genetic diseases from this variant.

Evidence Level

2B — Moderate — single replicated study See methodology for how we grade evidence.

Cross-References

dbSNP — rs869312953
ClinVar — search rs869312953
NCBI Gene — JAK1

Informational only

This page summarizes population-level evidence about a genetic variant. It is not a diagnosis. Your individual risk depends on your full genome, lifestyle, environment, and family history. Consult a healthcare provider for personalized medical advice.

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