Variant (rsID / SNP)

rs56048322

rs56048322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN22. Location: chromosome 1, position 114,372,214. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PTPN22Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:114372214
Cytoband: 1p13.2
HGVS: NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn)
Allele change: Silent

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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