rs1676486
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | >1.4x risk for LDH |
| (A;G) | 2 | 1.4x risk for LDH |
| (G;G) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 102888582 |
| Gene | COL11A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1676486 |
| dbSNP (classic) | rs1676486 |
| ClinGen | rs1676486 |
| ebi | rs1676486 |
| HLI | rs1676486 |
| Exac | rs1676486 |
| Gnomad | rs1676486 |
| Varsome | rs1676486 |
| LitVar | rs1676486 |
| Map | rs1676486 |
| PheGenI | rs1676486 |
| Biobank | rs1676486 |
| 1000 genomes | rs1676486 |
| hgdp | rs1676486 |
| ensembl | rs1676486 |
| geneview | rs1676486 |
| scholar | rs1676486 |
| rs1676486 | |
| pharmgkb | rs1676486 |
| gwascentral | rs1676486 |
| openSNP | rs1676486 |
| 23andMe | rs1676486 |
| SNPshot | rs1676486 |
| SNPdbe | rs1676486 |
| MSV3d | rs1676486 |
| GWAS Ctlg | rs1676486 |
| GMAF | 0.1846 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
Lumbar disc herniation (LDH), a form of lumbar disc disease, is one of the most common musculoskeletal diseases. rs1676486, a SNP also known as c.4603C-->T in the COLL11A1 gene (one of 3 Type XI collagen genes), has been implicated in a study of ~800 Japanese patients as being associated with LDH. The risk allele in dbSNP orientation is (A), and the odds ratio associated with the allele is 1.42 (CI: 1.23 - 1.65). [PMID 17999364
]
[PMID 23497244] Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues
[PMID 23624467] Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
[PMID 24854855] Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population
| ClinVar | |
|---|---|
| Risk | Rs1676486(G;G) |
| Alt | Rs1676486(G;G) |
| Reference | Rs1676486(A;A) |
| Significance | Other |
| Disease | Lumbar disc herniation not specified Stickler Syndrome Fibrochondrogenesis Marshall syndrome |
| Variation | info |
| Gene | COL11A1 |
| CLNDBN | Lumbar disc herniation, susceptibility to not specified Stickler Syndrome, Dominant Fibrochondrogenesis Marshall syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.103354138A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018675.5, RCV000252849.2, RCV000292881.1, RCV000332848.1, RCV000387237.1, |
