Variant (rsID / SNP)

rs200018153

rs200018153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK2. Location: chromosome 9, position 5,065,000. Clinical significance in the table: Likely benign.

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Reference-table entries

JAK2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:5065000
Cytoband: 9p24.1
HGVS: NM_004972.4(JAK2):c.1174G>A (p.Val392Met)
Allele change: Missense_V392M

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.