rs61734651
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs61734651(C;T) |
| Make rs61734651(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 62819980 |
| Gene | COL9A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61734651 |
| dbSNP (classic) | rs61734651 |
| ClinGen | rs61734651 |
| ebi | rs61734651 |
| HLI | rs61734651 |
| Exac | rs61734651 |
| Gnomad | rs61734651 |
| Varsome | rs61734651 |
| LitVar | rs61734651 |
| Map | rs61734651 |
| PheGenI | rs61734651 |
| Biobank | rs61734651 |
| 1000 genomes | rs61734651 |
| hgdp | rs61734651 |
| ensembl | rs61734651 |
| geneview | rs61734651 |
| scholar | rs61734651 |
| rs61734651 | |
| pharmgkb | rs61734651 |
| gwascentral | rs61734651 |
| openSNP | rs61734651 |
| 23andMe | rs61734651 |
| SNPshot | rs61734651 |
| SNPdbe | rs61734651 |
| MSV3d | rs61734651 |
| GWAS Ctlg | rs61734651 |
| GMAF | 0.03076 |
| Max Magnitude | 0 |
rs61734651, most commonly known as the Trp3 allele yet technically also known as c.307C>T, p.Arg103Trp and R103W, represents a variant in the COL9A3 gene on chromosome 20.
Several studies, albeit older ones and relatively small ones, have linked the rs61734651(T) allele to somewhat higher risk (odds ratio of ~3) to lumbar disc disease. However, more recent entries to ClinVar all evaluate this variant as benign, although without supplying their reasoning for so doing.
| ClinVar | |
|---|---|
| Risk | rs61734651(T;T) |
| Alt | rs61734651(T;T) |
| Reference | Rs61734651(C;C) |
| Significance | Other |
| Disease | Intervertebral disc disease not specified Multiple Epiphyseal Dysplasia |
| Variation | info |
| Gene | COL9A3 |
| CLNDBN | Intervertebral disc disease, susceptibility to not specified Multiple Epiphyseal Dysplasia, Dominant |
| Reversed | 0 |
| HGVS | NC_000020.10:g.61451332C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018677.3, RCV000178853.2, RCV000261594.1, |
