rs137853213
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CA;CA) | 0 | common in clinvar |
| Make rs137853213(CA;TG) |
| Make rs137853213(TG;TG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40307477 |
| Gene | COL9A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853213 |
| dbSNP (classic) | rs137853213 |
| ClinGen | rs137853213 |
| ebi | rs137853213 |
| HLI | rs137853213 |
| Exac | rs137853213 |
| Gnomad | rs137853213 |
| Varsome | rs137853213 |
| LitVar | rs137853213 |
| Map | rs137853213 |
| PheGenI | rs137853213 |
| Biobank | rs137853213 |
| 1000 genomes | rs137853213 |
| hgdp | rs137853213 |
| ensembl | rs137853213 |
| geneview | rs137853213 |
| scholar | rs137853213 |
| rs137853213 | |
| pharmgkb | rs137853213 |
| gwascentral | rs137853213 |
| openSNP | rs137853213 |
| 23andMe | rs137853213 |
| SNPshot | rs137853213 |
| SNPdbe | rs137853213 |
| MSV3d | rs137853213 |
| GWAS Ctlg | rs137853213 |
| Max Magnitude | 0 |
rs137853213, often referred to as the Trp2 allele but technically also known as c.976_977delCAinsTG, p.Gln326Trp, and Q326W, represents a well-studied variant in the COL9A2 gene on chromosome 1.
Although initial reports associated the rs137853213 variant allele with intervertebral disc disease, subsequent studies have questioned this, and currently ClinVar indicates that this is considered a variant of uncertain significance.
| ClinVar | |
|---|---|
| Risk | rs137853213(TG;TG) |
| Alt | rs137853213(TG;TG) |
| Reference | Rs137853213(CA;CA) |
| Significance | Other |
| Disease | Intervertebral disc disease |
| Variation | info |
| Gene | COL9A2 |
| CLNDBN | Intervertebral disc disease, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000001.10:g.40773149_40773150delTGinsCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018683.2, |
