ADAMTS13
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
| EntrezGene | 11093 |
| PheGenI | 11093 |
| VariationViewer | 11093 |
| ClinVar | ADAMTS13 |
| GeneCards | ADAMTS13 |
| dbSNP | 11093 |
| Diseases | ADAMTS13 |
| SADR | 11093 |
| HugeNav | 11093 |
| wikipedia | ADAMTS13 |
| ADAMTS13 | |
| gopubmed | ADAMTS13 |
| EVS | ADAMTS13 |
| HEFalMp | ADAMTS13 |
| MyGene2 | ADAMTS13 |
| 23andMe | ADAMTS13 |
| UniProt | Q76LX8 |
| Ensembl | ENSG00000160323 |
| OMIM | 604134 |
| # SNPs | 34 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057520680 | 0 | 133,449,966 | |
| rs1060499780 | 0 | 133,455,576 | |
| rs11575933 | 0 | 133,436,943 | |
| rs121908467 | 0 | 133,424,434 | |
| rs121908468 | 0 | 133,448,718 | |
| rs121908469 | 0 | 133,424,452 | |
| rs121908470 | 0 | 133,426,246 | |
| rs121908471 | 0 | 133,433,478 | |
| rs121908472 | 0 | 133,454,440 | |
| rs121908473 | 0 | 133,437,895 | |
| rs121908474 | 0 | 133,456,138 | |
| rs121908475 | 0 | 133,442,504 | |
| rs121908476 | 0 | 133,436,865 | |
| rs121908477 | 0 | 133,428,750 | |
| rs121908478 | 0 | 133,428,696 | |
| rs142572218 | 0 | 133,454,548 | |
| rs148312697 | 0 | 133,426,218 | |
| rs2285489 | 0 | 133,424,254 | |
| rs2301612 | 0 | 133,436,862 | |
| rs281875305 | 0 | 133,437,836 | |
| rs28647808 | 1.2 | 133,440,409 | |
| rs3118667 | 0 | 133,425,943 | |
| rs36222275 | 0 | 133,449,865 | |
| rs387906341 | 0 | 133,456,597 | |
| rs387906342 | 0 | 133,443,517 | |
| rs387906343 | 0 | 133,459,039 | |
| rs387906344 | 0 | 133,439,443 | |
| rs387906345 | 0 | 133,424,439 | |
| rs387906346 | 0 | 133,449,851 | |
| rs41314453 | 0 | 133,442,704 | |
| rs4962153 | 0 | 133,458,632 | |
| rs739469 | 0 | 133,433,609 | |
| rs786205077 | 0 | 133,425,613 | |
| rs786205078 | 0 | 133,425,528 |
ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) — also known as von Willebrand factor-cleaving protease (VWFCP) — is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting. Deficiency of ADAMTS13 was originally discovered in Upshaw-Schülman syndrome, the recurring familial form of thrombotic thrombocytopenic purpura. Wikipedia
