rs532464664
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| (CGCGCGCC;CGCGCGCC) | 3.9 | Possible propensity to hip osteoarthritis |
| Make rs532464664(-;CGCGCGCC) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 22 |
| Position | 41238083 |
| Gene | CHADL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs532464664 |
| dbSNP (classic) | rs532464664 |
| ClinGen | rs532464664 |
| ebi | rs532464664 |
| HLI | rs532464664 |
| Exac | rs532464664 |
| Gnomad | rs532464664 |
| Varsome | rs532464664 |
| LitVar | rs532464664 |
| Map | rs532464664 |
| PheGenI | rs532464664 |
| Biobank | rs532464664 |
| 1000 genomes | rs532464664 |
| hgdp | rs532464664 |
| ensembl | rs532464664 |
| geneview | rs532464664 |
| scholar | rs532464664 |
| rs532464664 | |
| pharmgkb | rs532464664 |
| gwascentral | rs532464664 |
| openSNP | rs532464664 |
| 23andMe | rs532464664 |
| SNPshot | rs532464664 |
| SNPdbe | rs532464664 |
| MSV3d | rs532464664 |
| GWAS Ctlg | rs532464664 |
| Max Magnitude | 3.9 |
aka p.Val330Glyfs*106, in the CHADL gene
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis: A study of 4,500+ Icelandic patients indicates that rs532464664 is associated with osteoarthritis through a recessive mode of inheritance (homozygote frequency = 0.15%, p = 4.5 × 10e−18, OR 7.71); on average, homozygous for rs532464664 had their hip replacement operation 4.9 years earlier than others (p = 0.0026), 10.1038/ng.3816
