Gene entry
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
- Chromosome
- 1
- Cytoband
- 1p36.22
- Variants (rsID)
- 18
PLOD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.22). Its official name is “procollagen-lysine,2-oxoglutarate 5-dioxygenase 1”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs1208984Benignsingle nucleotide variant
- rs142978362Benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, kyphoscoliotic type 1|Ehlers-Danlos syndrome
- rs149124387Benignsingle nucleotide variantEhlers-Danlos syndrome, kyphoscoliotic type 1|Cardiovascular phenotype
- rs2273285Benignsingle nucleotide variantEhlers-Danlos syndrome, kyphoscoliotic type 1|Cardiovascular phenotype
- rs34878020Benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, kyphoscoliotic type 1|Ehlers-Danlos syndrome
- rs79345327Benignsingle nucleotide variantEhlers-Danlos syndrome, kyphoscoliotic type 1
- rs140758113Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, kyphoscoliotic type 1
- rs149425237Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, kyphoscoliotic type 1
- rs188165334Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, kyphoscoliotic type 1|Cardiovascular phenotype
- rs138698098Uncertain significancesingle nucleotide variantEhlers-Danlos syndrome, kyphoscoliotic type 1
- rs141692280Uncertain significancesingle nucleotide variantEhlers-Danlos syndrome, kyphoscoliotic type 1
- rs144702307Uncertain significancesingle nucleotide variantEhlers-Danlos syndrome, kyphoscoliotic type 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.