Variant (rsID / SNP)

rs2230724

rs2230724 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK2. Location: chromosome 9, position 5,081,780. Clinical significance in the table: Benign.

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Reference-table entries

JAK2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:5081780
Cytoband: 9p24.1
HGVS: NM_004972.4(JAK2):c.2490G>A (p.Leu830=)
Allele change: Synonymous_L830L

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.