Gene: ADAMTS13 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875299
rs281875299
ADAMTS13
T 0.810 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs142572218
rs142572218
ADAMTS13
T 0.810 CausalMutation CLINVAR Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. 22529288

2012
dbSNP: rs142572218
rs142572218
ADAMTS13
T 0.810 CausalMutation CLINVAR The high prevalence of R1060W ADAMTS-13 in adult onset TTP, together with its absence in childhood congenital TTP cases reported elsewhere, suggests it may be a factor in the development of late onset TTP. 18031293

2008
dbSNP: rs142572218
rs142572218
ADAMTS13
T 0.810 CausalMutation CLINVAR Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. 16796708

2006
dbSNP: rs142572218
rs142572218
ADAMTS13
T 0.810 CausalMutation CLINVAR A common origin of the 4143insA ADAMTS13 mutation. 16807643

2006
dbSNP: rs121908470
rs121908470
ADAMTS13
T 0.810 CausalMutation CLINVAR

dbSNP: rs121908475
rs121908475
ADAMTS13
T 0.810 CausalMutation CLINVAR

dbSNP: rs281875307
rs281875307
ADAMTS13
T 0.800 GeneticVariation CLINVAR Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome. 21676167

2011
dbSNP: rs281875302
rs281875302
ADAMTS13
A 0.800 GeneticVariation CLINVAR Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. 16453338

2006
dbSNP: rs281875302
rs281875302
ADAMTS13
A 0.800 GeneticVariation CLINVAR Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement. 15800115

2005
dbSNP: rs281875307
rs281875307
ADAMTS13
T 0.800 GeneticVariation CLINVAR Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. 14563640

2004
dbSNP: rs281875302
rs281875302
ADAMTS13
A 0.800 GeneticVariation CLINVAR ADAMTS 13 genotype and vWF protease activity in an Italian family with TTP. 14597993

2003
dbSNP: rs121908467
rs121908467
ADAMTS13
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908468
rs121908468
ADAMTS13
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908469
rs121908469
ADAMTS13
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908471
rs121908471
ADAMTS13
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908472
rs121908472
ADAMTS13
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908473
rs121908473
ADAMTS13
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908474
rs121908474
ADAMTS13
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908477
rs121908477
ADAMTS13
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908478
rs121908478
ADAMTS13
T 0.800 CausalMutation CLINVAR

dbSNP: rs281875287
rs281875287
ADAMTS13
T 0.800 GeneticVariation CLINVAR

dbSNP: rs148312697
rs148312697
ADAMTS13
C 0.710 GeneticVariation CLINVAR Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis. 27802307

2016
dbSNP: rs148312697
rs148312697
ADAMTS13
C 0.710 GeneticVariation CLINVAR Our data indicate that the p.D187H mutation impairs ADAMTS13 activity and secretion and is responsible for TTP onset in mice. 25442981

2015
dbSNP: rs148312697
rs148312697
ADAMTS13
C 0.710 GeneticVariation CLINVAR Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity. 25934476

2015