Gene entry
JAK1
Janus kinase 1
- Chromosome
- 1
- Cytoband
- 1p31.3
- Variants (rsID)
- 41
JAK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p31.3). Its official name is “Janus kinase 1”. The reference table lists 41 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs869312953Likely pathogenicsingle nucleotide variantInborn genetic diseases|Lymphoblastic leukemia, acute, with lymphomatous features|Autoinflammation, immune dysregulation, and eosinophilia
- rs149968614Uncertain significancesingle nucleotide variantAutoinflammation, immune dysregulation, and eosinophilia
Other listed variants
- rs310199
- rs310202
- rs478665
- rs513857
- rs535857
- rs555038
- rs576563
- rs2780815
- rs2780897
- rs3014983
- rs4916014
- rs7539178
- rs10889503
- rs11208566
- rs11208576
- rs11589406
- rs12563017
- rs12743599
- rs17127168
- rs17127247
- rs56345619
- rs59409703
- rs61306748
- rs72675451
- rs75947119
- rs76265425
- rs78929091
- rs114256320
- rs115124469
- rs115141952
- rs115706445
- rs116528404
- rs117845051
- rs138217152
- rs139996458
- rs143816560
- rs150021823
- rs151037230
- rs199679136
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.