Immunity & Allergy · Document 17 of 24
Autoimmune Markers
Selected variants associated with Sample Subject's autoimmune predisposition, read from the PTPN22 and CTLA4 immune-regulatory genes. All values below are synthetic and for demonstration only.
2 findings
1 Tier 2
1 Tier 3
Reviewed 2026-01-15
Provenance
Per-Gene Findings
Filter:
PTPN22 — R620W Risk Allele
Protein tyrosine phosphatase · T-cell signaling
ClinVarTier 2
rs2476601
1:114,377,568
GA
The GA genotype carries one PTPN22 R620W risk allele. This variant alters T-cell receptor signaling and associates with several autoimmune conditions across populations.
Source: ClinVar PTPN22 R620W ↗ · PubMed PMID 15004560 ↗
CTLA4 — Checkpoint Locus
Cytotoxic T-lymphocyte antigen 4 · immune checkpoint
GWASTier 3
rs3087243
2:204,738,919
GA
The GA genotype sits at the CTLA4 checkpoint locus. CTLA4 restrains T-cell activation, and this position contributes to autoimmune-susceptibility context.
Source: GWAS Catalog CTLA4 ↗ · dbSNP rs3087243 ↗
Genotype Table
| rsID | chr:pos | Genotype | Gene | Significance |
|---|---|---|---|---|
rs2476601 | 1:114,377,568 | GA | PTPN22 | Tier 2 |
rs3087243 | 2:204,738,919 | GA | CTLA4 | Tier 3 |
Consult your prescribing clinician. This HelixlyAI report is a synthetic demonstration generated from a consumer DNA export. It is not a diagnosis, prescription, or substitute for professional medical advice. Do not start, stop, or change any medication based on this document. Genotype is one of many factors influencing drug response.