rs1800255
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.5 | increased risk for pelvic organ prolapse |
| (A;G) | 1 | benign |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 188999354 |
| Gene | COL3A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800255 |
| dbSNP (classic) | rs1800255 |
| ClinGen | rs1800255 |
| ebi | rs1800255 |
| HLI | rs1800255 |
| Exac | rs1800255 |
| Gnomad | rs1800255 |
| Varsome | rs1800255 |
| LitVar | rs1800255 |
| Map | rs1800255 |
| PheGenI | rs1800255 |
| Biobank | rs1800255 |
| 1000 genomes | rs1800255 |
| hgdp | rs1800255 |
| ensembl | rs1800255 |
| geneview | rs1800255 |
| scholar | rs1800255 |
| rs1800255 | |
| pharmgkb | rs1800255 |
| gwascentral | rs1800255 |
| openSNP | rs1800255 |
| 23andMe | rs1800255 |
| SNPshot | rs1800255 |
| SNPdbe | rs1800255 |
| MSV3d | rs1800255 |
| GWAS Ctlg | rs1800255 |
| GMAF | 0.2094 |
| Max Magnitude | 2.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs1800255, aka c.2092G>A, A698T or p.Ala698Thr, is a SNP in the alpha I chain of the type III collagen protein-encoding COL3A1 gene.
A relatively small study (200 patients) reported an odds ratio of 5 (CI: 1.4-17.1) between rs1800255(A;A) homozygotes and risk for pelvic organ prolapse. No significance was found for the heterozygous genotype.[PMID 19444361]
A meta-analysis published in 2014 reported that the rs1800255(A;A) genotype was associated with pelvic organ prolapse (OR 4.79; CI: 1.91-11.98, p = .001) compared with the reference genotype (G;G) in populations of Asian and Dutch women.[PMID 24721264
]
[PMID 22241462] A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms
| ClinVar | |
|---|---|
| Risk | Rs1800255(A;A) |
| Alt | Rs1800255(A;A) |
| Reference | Rs1800255(G;G) |
| Significance | Non-pathogenic |
| Disease | COLLAGEN TYPE III POLYMORPHISM not specified Thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL3A1 |
| CLNDBN | COLLAGEN TYPE III POLYMORPHISM not specified Thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome, type 4 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.189864080G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018745.2, RCV000177438.3, RCV000251322.1, RCV000395000.1, |
[PMID 18642782] [Correlation of COL3A1 gene with type III collagen stability in intracranial aneurysm].
[PMID 18722615] Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse.
[PMID 19398442] Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia.
[PMID 21219851] A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.
[PMID 23013106] No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion
[PMID 22894972] Collagen genes and exercise-associated muscle cramping
[PMID 26060338] Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury
[PMID 29086084] The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis.
[PMID 30121816] Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population.
