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Variant (rsID / SNP)

rs2476601

PTPN22

rs2476601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN22. Location: chromosome 1, position 114,377,568. Clinical significance in the table: Benign.

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Reference-table entries

PTPN22Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
1:114377568
Cytoband
1p13.2
HGVS
NM_015967.8(PTPN22):c.1858= (p.Trp620=)
Allele change
Silent

Associated conditions / phenotypes

Diabetes mellitus, insulin-dependent, susceptibility to|Rheumatoid arthritis|Systemic lupus erythematosus, susceptibility to|Hashimoto thyroiditis, susceptibility to|Addison disease, susceptibility to|chronic fatigue syndrome with infection-triggered onset

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.