rs387906343
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs387906343(-;A) |
| Make rs387906343(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133459039 |
| Gene | ADAMTS13, CACFD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906343 |
| dbSNP (classic) | rs387906343 |
| ClinGen | rs387906343 |
| ebi | rs387906343 |
| HLI | rs387906343 |
| Exac | rs387906343 |
| Gnomad | rs387906343 |
| Varsome | rs387906343 |
| LitVar | rs387906343 |
| Map | rs387906343 |
| PheGenI | rs387906343 |
| Biobank | rs387906343 |
| 1000 genomes | rs387906343 |
| hgdp | rs387906343 |
| ensembl | rs387906343 |
| geneview | rs387906343 |
| scholar | rs387906343 |
| rs387906343 | |
| pharmgkb | rs387906343 |
| gwascentral | rs387906343 |
| openSNP | rs387906343 |
| 23andMe | rs387906343 |
| SNPshot | rs387906343 |
| SNPdbe | rs387906343 |
| MSV3d | rs387906343 |
| GWAS Ctlg | rs387906343 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs387906343(A;A) |
| Alt | rs387906343(A;A) |
| Reference | Rs387906343(-;-) |
| Significance | Pathogenic |
| Disease | Upshaw-Schulman syndrome |
| Variation | info |
| Gene | CACFD1 ADAMTS13 |
| CLNDBN | Upshaw-Schulman syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136324161dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006163.4, |
