rs886042976
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Chromosome | 1 |
| Position | 11950381 |
| Gene | PLOD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886042976 |
| dbSNP (classic) | rs886042976 |
| ClinGen | rs886042976 |
| ebi | rs886042976 |
| HLI | rs886042976 |
| Exac | rs886042976 |
| Gnomad | rs886042976 |
| Varsome | rs886042976 |
| LitVar | rs886042976 |
| Map | rs886042976 |
| PheGenI | rs886042976 |
| Biobank | rs886042976 |
| 1000 genomes | rs886042976 |
| hgdp | rs886042976 |
| ensembl | rs886042976 |
| geneview | rs886042976 |
| scholar | rs886042976 |
| rs886042976 | |
| pharmgkb | rs886042976 |
| gwascentral | rs886042976 |
| openSNP | rs886042976 |
| 23andMe | rs886042976 |
| SNPshot | rs886042976 |
| SNPdbe | rs886042976 |
| MSV3d | rs886042976 |
| GWAS Ctlg | rs886042976 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886042976(-;-) |
| Alt | rs886042976(-;-) |
| Reference | Rs886042976(G;G) |
| Significance | Pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | PLOD1 |
| CLNDBN | Ehlers-Danlos syndrome, hydroxylysine-deficient |
| Reversed | 0 |
| HGVS | NC_000001.10:g.12010438delG |
| CLNSRC | |
| CLNACC | RCV000276190.1, |
