Gene entry
EPAS1
endothelial PAS domain protein 1
- Chromosome
- 2
- Cytoband
- 2p21
- Variants (rsID)
- 40
EPAS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p21). Its official name is “endothelial PAS domain protein 1”. The reference table lists 40 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs59901247Benignsingle nucleotide variantErythrocytosis, familial, 4
Other listed variants
- rs1374749
- rs1867784
- rs1867785
- rs1868089
- rs3768728
- rs4953344
- rs4953345
- rs4953359
- rs4953361
- rs6726454
- rs6753302
- rs6755594
- rs7571879
- rs7571891
- rs7577700
- rs7579899
- rs7589621
- rs9679290
- rs10166198
- rs10176396
- rs10178633
- rs10187368
- rs10193827
- rs12614710
- rs17035010
- rs34136947
- rs35416129
- rs62136992
- rs72618618
- rs72797412
- rs76055408
- rs77068372
- rs77074427
- rs113717961
- rs116056466
- rs116386607
- rs181240421
- rs187821419
- rs200537958
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.