Variant (rsID / SNP)

rs149968614

rs149968614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAK1. Location: chromosome 1, position 65,312,368. Clinical significance in the table: Uncertain significance.

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Reference-table entries

JAK1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:65312368
Cytoband: 1p31.3
HGVS: NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
Allele change: Missense_V651M

Associated conditions / phenotypes

Autoinflammation, immune dysregulation, and eosinophilia

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.