Gene entry
COL5A1
collagen type V alpha 1 chain
- Chromosome
- 9
- Cytoband
- 9q34.3
- Variants (rsID)
- 108
COL5A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.3). Its official name is “collagen type V alpha 1 chain”. The reference table lists 108 variants (rsID) for this gene.
Clinically classified variants
37 reference-table entries with clinical significance.
- rs116003670Benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
- rs12686426Benignsingle nucleotide variantEhlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
- rs12722Benignsingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
- rs139468527Benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
- rs144844792Benignsingle nucleotide variantEhlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Cardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
- rs3811159Benignsingle nucleotide variantEhlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
- rs61735045Benignsingle nucleotide variantEhlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome type 7A|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 1|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL|Ehlers-Danlos syndrome
- rs61736966Benignsingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome|FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
- rs113452150Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, classic type, 1
- rs139070070Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs140797509Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs142313124Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs143859495Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs147729713Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 1
- rs149369116Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs183881247Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, classic type, 1
- rs199836060Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 1
- rs200595318Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1
- rs369093559Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1
- rs370349155Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs374020067Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs376248130Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs377138881Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, classic type, 1
- rs576332528Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Cardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 1
- rs61736827Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs764644830Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1
- rs764683617Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1
- rs766961124Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A
- rs886063678Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype
- rs116156416Likely benignsingle nucleotide variantEhlers-Danlos syndrome type 7A
- rs116561240Likely benignsingle nucleotide variantEhlers-Danlos syndrome type 7A
- rs142890619Likely benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
- rs147008954Likely benignsingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1
- rs185912761Likely benignsingle nucleotide variantEhlers-Danlos syndrome, classic type, 1
- rs183495554Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, classic type, 1
- rs765079080Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, classic type, 1
- rs372109796Uncertain significancesingle nucleotide variantEhlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
Other listed variants
- rs3109670
- rs3124300
- rs3128578
- rs3128589
- rs3128601
- rs3128615
- rs3922914
- rs4075077
- rs4446798
- rs4497045
- rs4529530
- rs4842138
- rs4842165
- rs4842167
- rs4842168
- rs4842169
- rs4842170
- rs4842173
- rs6537942
- rs6537945
- rs7036416
- rs7044529
- rs7045205
- rs7855854
- rs7864597
- rs7864699
- rs7867006
- rs7870784
- rs7874142
- rs9409919
- rs9409992
- rs10458324
- rs10776908
- rs10858265
- rs10858266
- rs11103468
- rs11103472
- rs11103476
- rs11103508
- rs11103509
- rs11103535
- rs11999245
- rs12005196
- rs12552193
- rs34326204
- rs34816825
- rs56381603
- rs58509148
- rs61326243
- rs62571325
- rs62571352
- rs72774443
- rs74559797
- rs74942446
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.