rs606231243
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs606231243(-;CGTA) |
| Make rs606231243(CGTA;CGTA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 10 |
| Position | 87714142 |
| Gene | PAPSS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231243 |
| dbSNP (classic) | rs606231243 |
| ClinGen | rs606231243 |
| ebi | rs606231243 |
| HLI | rs606231243 |
| Exac | rs606231243 |
| Gnomad | rs606231243 |
| Varsome | rs606231243 |
| LitVar | rs606231243 |
| Map | rs606231243 |
| PheGenI | rs606231243 |
| Biobank | rs606231243 |
| 1000 genomes | rs606231243 |
| hgdp | rs606231243 |
| ensembl | rs606231243 |
| geneview | rs606231243 |
| scholar | rs606231243 |
| rs606231243 | |
| pharmgkb | rs606231243 |
| gwascentral | rs606231243 |
| openSNP | rs606231243 |
| 23andMe | rs606231243 |
| SNPshot | rs606231243 |
| SNPdbe | rs606231243 |
| MSV3d | rs606231243 |
| GWAS Ctlg | rs606231243 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs606231243(ACGT;ACGT) |
| Alt | rs606231243(ACGT;ACGT) |
| Reference | Rs606231243(-;-) |
| Significance | Pathogenic |
| Disease | Spondyloepimetaphyseal dysplasia |
| Variation | info |
| Gene | PAPSS2 |
| CLNDBN | Spondyloepimetaphyseal dysplasia, pakistani type |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89473896_89473899dupCGTA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000032845.3, |
