rs142572218
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs142572218(C;T) |
| Make rs142572218(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 133454548 |
| Gene | ADAMTS13 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142572218 |
| dbSNP (classic) | rs142572218 |
| ClinGen | rs142572218 |
| ebi | rs142572218 |
| HLI | rs142572218 |
| Exac | rs142572218 |
| Gnomad | rs142572218 |
| Varsome | rs142572218 |
| LitVar | rs142572218 |
| Map | rs142572218 |
| PheGenI | rs142572218 |
| Biobank | rs142572218 |
| 1000 genomes | rs142572218 |
| hgdp | rs142572218 |
| ensembl | rs142572218 |
| geneview | rs142572218 |
| scholar | rs142572218 |
| rs142572218 | |
| pharmgkb | rs142572218 |
| gwascentral | rs142572218 |
| openSNP | rs142572218 |
| 23andMe | rs142572218 |
| SNPshot | rs142572218 |
| SNPdbe | rs142572218 |
| MSV3d | rs142572218 |
| GWAS Ctlg | rs142572218 |
| Max Magnitude | 0 |
[PMID 25934476] Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity
| ClinVar | |
|---|---|
| Risk | rs142572218(A;A) rs142572218(T;T) |
| Alt | rs142572218(A;A) rs142572218(T;T) |
| Reference | Rs142572218(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | ADAMTS13 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136319670C>T |
| CLNSRC | UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000059767.1, |
