Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

COL3A1

collagen type III alpha 1 chain

Chromosome
2
Cytoband
2q32.2
Variants (rsID)
378

COL3A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q32.2). Its official name is “collagen type III alpha 1 chain”. The reference table lists 378 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

373 reference-table entries with clinical significance (first 200 shown).

  • rs13306267Benignsingle nucleotide variant
  • rs139619440Benignsingle nucleotide variantEhlers-Danlos syndrome, type 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
  • rs1800255Benignsingle nucleotide variantCOLLAGEN TYPE III POLYMORPHISM|Cardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|Polymicrogyria with or without vascular-type ehlers-danlos syndrome|Ehlers-Danlos syndrome
  • rs1801184Benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|Polymicrogyria with or without vascular-type ehlers-danlos syndrome
  • rs199727625Benignsingle nucleotide variantEhlers-Danlos syndrome, type 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
  • rs2271680Benignsingle nucleotide variant
  • rs35795890Benignsingle nucleotide variantEhlers-Danlos syndrome, type 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
  • rs41263775Benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs41265549Benignsingle nucleotide variant
  • rs111391222Conflicting interpretationssingle nucleotide variantAortic aneurysm|Cardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
  • rs111567071Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Cardiovascular phenotype|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
  • rs111840783Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Loeys-Dietz syndrome|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs144614075Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Ehlers-Danlos syndrome, type 3|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome, type 4
  • rs201380807Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection
  • rs374452484Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs560861999Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
  • rs587779585Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs771585795Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs771654029Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
  • rs776478974Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs777361888Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs779774302Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome, type 4
  • rs794727586Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs201220788Likely benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs41272803Likely benignsingle nucleotide variant
  • rs79632685Likely benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs1057523593Likely pathogenicsingle nucleotide variant
  • rs1060500194Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs1060500204Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs1064796468Likely pathogenicsingle nucleotide variant
  • rs1064796733Likely pathogenicsingle nucleotide variant
  • rs111929073Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs113871730Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912917Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912918Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912921Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912927Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs193922176Likely pathogenicsingle nucleotide variantFamilial aortopathy
  • rs267599120Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779424Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779431Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779437Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779438Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779442Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779481Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779487Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779495Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779498Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Polymicrogyria with or without vascular-type ehlers-danlos syndrome
  • rs587779508Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Ehlers-Danlos syndrome
  • rs587779534Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779541Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779550Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779552Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779558Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779561Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779567Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779575Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779596Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779604Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779623Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Ehlers-Danlos syndrome
  • rs587779633Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779639Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779641Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779656Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779673Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779682Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779703Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779704Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial aortopathy
  • rs587779715Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Loeys-Dietz syndrome
  • rs587779723Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs794728038Likely pathogenicsingle nucleotide variant
  • rs794728043Likely pathogenicsingle nucleotide variant
  • rs794728049Likely pathogenicsingle nucleotide variant
  • rs794728055Likely pathogenicsingle nucleotide variant
  • rs863224860Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Ehlers-Danlos syndrome, type 3
  • rs878853651Likely pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs886038892Likely pathogenicsingle nucleotide variantCardiovascular phenotype|See cases
  • rs1057518075Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs1057518372Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs1057521106Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs1057521930Pathogenicsingle nucleotide variant
  • rs1060500187Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs1060500199PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs1060500200PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs1060500203Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs112371422Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
  • rs112456072Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs112532745Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs113485686Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912913Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912914Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912915Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912916Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912919Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912920Pathogenicsingle nucleotide variantEHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT
  • rs121912922Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912923Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs121912924Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912925Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs121912926Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs121912928Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs1393544920Pathogenicsingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome, type 4
  • rs387906557Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs397509369Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs397509370Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection
  • rs397509371Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs397509372Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs397509373Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs397509374PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs397509375Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs397509376Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs397509377PathogenicDuplicationPolymicrogyria with or without vascular-type ehlers-danlos syndrome
  • rs553203474Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779416Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779417Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779418Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779419Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779421Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779422Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779426Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779427Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779428Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779429Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779430PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779432Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779433Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779434Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779435Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779436Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779439Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779440Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779443Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779444Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779445Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779446Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779447Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779448Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779449Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779450Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779451PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779452Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779453Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779455PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779456Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779457Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779458Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779459Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779460Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779461Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779462PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779463Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779465Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779466Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779467Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779468Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779469Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779470Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779471Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779472Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779473Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779474Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779475PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779476Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779477Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779478Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779479Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4|Cardiovascular phenotype
  • rs587779480Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779482Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779483Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779484Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779485Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779486Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779488Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779489Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779490PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779491Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779492Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779493Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779494Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779496Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779497Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779499Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779500Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779501Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779502Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779503Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779504Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779505Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779506Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779507Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779509PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779511Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779512Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779513Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779514PathogenicDeletionEhlers-Danlos syndrome, type 4
  • rs587779515Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779516Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779517Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779519Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4
  • rs587779520Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, type 4

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.