rs431905519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TG;TG) | 0 | common in clinvar |
| Make rs431905519(-;-) |
| Make rs431905519(-;TG) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 128633813 |
| Gene | SPTAN1, WDR34 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs431905519 |
| dbSNP (classic) | rs431905519 |
| ClinGen | rs431905519 |
| ebi | rs431905519 |
| HLI | rs431905519 |
| Exac | rs431905519 |
| Gnomad | rs431905519 |
| Varsome | rs431905519 |
| LitVar | rs431905519 |
| Map | rs431905519 |
| PheGenI | rs431905519 |
| Biobank | rs431905519 |
| 1000 genomes | rs431905519 |
| hgdp | rs431905519 |
| ensembl | rs431905519 |
| geneview | rs431905519 |
| scholar | rs431905519 |
| rs431905519 | |
| pharmgkb | rs431905519 |
| gwascentral | rs431905519 |
| openSNP | rs431905519 |
| 23andMe | rs431905519 |
| SNPshot | rs431905519 |
| SNPdbe | rs431905519 |
| MSV3d | rs431905519 |
| GWAS Ctlg | rs431905519 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs431905519(-;-) |
| Alt | rs431905519(-;-) |
| Reference | Rs431905519(TG;TG) |
| Significance | Pathogenic |
| Disease | Short-rib thoracic dysplasia 11 with or without polydactyly |
| Variation | info |
| Gene | SPTAN1 WDR34 |
| CLNDBN | Short-rib thoracic dysplasia 11 with or without polydactyly |
| Reversed | 0 |
| HGVS | NC_000009.11:g.131396092_131396093delTG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000083289.5, |
