rs797045099
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CATTC;CATTC) | 0 | common in clinvar |
| Make rs797045099(-;-) |
| Make rs797045099(-;ATTCC) |
| Make rs797045099(ATTCC;ATTCC) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 10 |
| Position | 87745172 |
| Gene | PAPSS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797045099 |
| dbSNP (classic) | rs797045099 |
| ClinGen | rs797045099 |
| ebi | rs797045099 |
| HLI | rs797045099 |
| Exac | rs797045099 |
| Gnomad | rs797045099 |
| Varsome | rs797045099 |
| LitVar | rs797045099 |
| Map | rs797045099 |
| PheGenI | rs797045099 |
| Biobank | rs797045099 |
| 1000 genomes | rs797045099 |
| hgdp | rs797045099 |
| ensembl | rs797045099 |
| geneview | rs797045099 |
| scholar | rs797045099 |
| rs797045099 | |
| pharmgkb | rs797045099 |
| gwascentral | rs797045099 |
| openSNP | rs797045099 |
| 23andMe | rs797045099 |
| SNPshot | rs797045099 |
| SNPdbe | rs797045099 |
| MSV3d | rs797045099 |
| GWAS Ctlg | rs797045099 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797045099(-;-) |
| Alt | rs797045099(-;-) |
| Reference | Rs797045099(CATTC;CATTC) |
| Significance | Probable-Pathogenic |
| Disease | Spondyloepimetaphyseal dysplasia |
| Variation | info |
| Gene | PAPSS2 |
| CLNDBN | Spondyloepimetaphyseal dysplasia, pakistani type |
| Reversed | 0 |
| HGVS | NC_000010.10:g.89504929_89504933delATTCC |
| CLNSRC | |
| CLNACC | RCV000190612.1, |
