Gene: ADAMTS13 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499780
rs1060499780
ADAMTS13
C 0.700 GeneticVariation CLINVAR

dbSNP: rs11575933
rs11575933
ADAMTS13
T 0.700 CausalMutation CLINVAR

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: rs121908470
rs121908470
ADAMTS13
T 0.810 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: rs121908475
rs121908475
ADAMTS13
T 0.810 CausalMutation CLINVAR

dbSNP: rs121908476
rs121908476
ADAMTS13
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908477
rs121908477
ADAMTS13
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908478
rs121908478
ADAMTS13
T 0.800 CausalMutation CLINVAR

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 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: 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: 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