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ADAMTS13

From SNPedia

is agene
is mentioned by
Full nameADAM metallopeptidase with thrombospondin type 1 motif, 13
EntrezGene11093
PheGenI11093
VariationViewer11093
ClinVarADAMTS13
dbSNP11093
SADR11093
HugeNav11093
wikipediaADAMTS13
googleADAMTS13
gopubmedADAMTS13
EVSADAMTS13
HEFalMpADAMTS13
MyGene2ADAMTS13
23andMeADAMTS13
UniProtQ76LX8
EnsemblENSG00000160323
OMIM604134
# SNPs31
 Max MagnitudeChromosome positionSummary
rs115759330133,436,943
rs1219084670133,424,434
rs1219084680133,448,718
rs1219084690133,424,452
rs1219084700133,426,246
rs1219084710133,433,478
rs1219084720133,454,440
rs1219084730133,437,895
rs1219084740133,456,138
rs1219084750133,442,504
rs1219084760133,436,865
rs1219084770133,428,750
rs1219084780133,428,696
rs1425722180133,454,548
rs148312697133,426,218
rs2285489133,424,254
rs23016120133,436,862
rs2818753050133,437,836
rs286478081.2133,440,409
rs36222275133,449,865
rs3879063410133,456,597
rs3879063420133,443,517
rs3879063430133,459,039
rs3879063440133,439,443
rs3879063450133,424,439
rs3879063460133,449,851
rs41314453133,442,704
rs4962153133,458,632
rs739469133,433,609
rs7862050770133,425,613
rs7862050780133,425,528

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