Gene entry
COL18A1
collagen type XVIII alpha 1 chain
- Chromosome
- 21
- Cytoband
- 21q22.3
- Variants (rsID)
- 50
COL18A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.3). Its official name is “collagen type XVIII alpha 1 chain”. The reference table lists 50 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs116618591Benignsingle nucleotide variantKnobloch syndrome
- rs11702425Benignsingle nucleotide variantKnobloch syndrome|Glaucoma, primary closed-angle
- rs12483377Benignsingle nucleotide variantKnobloch syndrome
- rs142726108Benignsingle nucleotide variantKnobloch syndrome
- rs144147445Benignsingle nucleotide variant
- rs2236467Benignsingle nucleotide variantKnobloch syndrome
- rs2838952Benignsingle nucleotide variantKnobloch syndrome
- rs61738822Benignsingle nucleotide variantKnobloch syndrome
- rs77326997Benignsingle nucleotide variant
- rs7867Benignsingle nucleotide variantKnobloch syndrome
- rs79980197Benignsingle nucleotide variantKnobloch syndrome|Glaucoma, primary closed-angle
Other listed variants
- rs879330
- rs2183590
- rs2236455
- rs2274808
- rs2838912
- rs2838915
- rs2838917
- rs2838922
- rs2838942
- rs4819099
- rs7279445
- rs9975785
- rs9980525
- rs11701479
- rs12627289
- rs13048803
- rs17338076
- rs28557346
- rs56363367
- rs56770975
- rs62216283
- rs75222922
- rs76589614
- rs78672435
- rs78833614
- rs78833873
- rs79940064
- rs111761582
- rs114220916
- rs115843278
- rs117115507
- rs117141054
- rs117268569
- rs117627310
- rs117865619
- rs117873808
- rs117908384
- rs142892701
- rs377444691
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.