PHYHD1

phytanoyl-CoA dioxygenase domain containing 1

Summary

Enables 2-oxoglutarate-dependent dioxygenase activity. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants26 total

rsidPosition (GRCh37)AllelesClassClinVar
rs736248159:131,684,640G/Csplice region variant—
rs572945839:131,684,836A/Gregulatory region variant—
rs557581609:131,685,015A/C——
rs558686009:131,686,624G/Aintron variant—
rs7684850909:131,689,360C/T—uncertain significance
rs1450266669:131,689,369G/T—uncertain significance
rs1490875299:131,689,386A/T—uncertain significance
rs1130585199:131,689,390T/C—uncertain significance
rs3688772639:131,689,431C/T—uncertain significance
rs1478559949:131,689,468G/A—uncertain significance
rs283733739:131,692,851A/T——
rs2002423219:131,698,747G/A—uncertain significance
rs3737247879:131,698,895G/A—uncertain significance
rs13321147929:131,698,908G/A—uncertain significance
rs125559019:131,699,540G/A——
rs175078529:131,700,948C/Tupstream gene variant—
rs10382992359:131,702,652C/A—uncertain significance
rs15645434419:131,702,691G/C—uncertain significance
rs3715620249:131,702,707G/A—likely benign
rs7453133639:131,702,728G/A—uncertain significance
rs5634353139:131,702,747G/A—uncertain significance
rs9158435199:131,702,902G/A—uncertain significance
rs18415349929:131,702,929C/A—uncertain significance
rs7789382309:131,702,941G/T—uncertain significance
rs2002245499:131,703,787C/T—uncertain significance
rs109881629:131,704,433T/Cdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.