Gene: ADAMTS13 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908471
rs121908471
ADAMTS13
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908474
rs121908474
ADAMTS13
A 0.800 CausalMutation CLINVAR

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

2003
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: rs1554797078
rs1554797078
ADAMTS13 ; CACFD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs375415632
rs375415632
ADAMTS13
A 0.700 GeneticVariation CLINVAR Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease. 18481107

2008
dbSNP: rs375415632
rs375415632
ADAMTS13
A 0.700 GeneticVariation CLINVAR Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. 15126318

2004
dbSNP: rs782235228
rs782235228
ADAMTS13
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205077
rs786205077
ADAMTS13
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205078
rs786205078
ADAMTS13
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908477
rs121908477
ADAMTS13
C 0.800 CausalMutation CLINVAR

dbSNP: rs148312697
rs148312697
ADAMTS13
C 0.710 GeneticVariation CLINVAR The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity. 20647566

2010
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 Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis. 23648131

2013
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 A functional calcium-binding site in the metalloprotease domain of ADAMTS13. 19047683

2009
dbSNP: rs148312697
rs148312697
ADAMTS13
C 0.710 GeneticVariation CLINVAR Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity. 25934476

2015
dbSNP: rs148312697
rs148312697
ADAMTS13
C 0.710 GeneticVariation CLINVAR Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease. 26081109

2015
dbSNP: rs1060499780
rs1060499780
ADAMTS13
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554789680
rs1554789680
ADAMTS13
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554791280
rs1554791280
ADAMTS13
C 0.700 CausalMutation CLINVAR

dbSNP: rs387906344
rs387906344
ADAMTS13
C 0.700 CausalMutation CLINVAR

dbSNP: rs387906343
rs387906343
ADAMTS13 ; CACFD1
CA 0.700 CausalMutation CLINVAR

dbSNP: rs387906341
rs387906341
ADAMTS13
CT 0.700 CausalMutation CLINVAR