Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142572218
rs142572218
0.030 GeneticVariation BEFREE In contrast, adult-onset USS, consisting exclusively in pregnancy-induced TTP, included a smaller and distinct panel of <i>ADAMTS13</i> sequence variations (<i>n</i> = 20) because of one mutation (p.Arg1060Trp) present in 82% of patients. 30312976

2018

dbSNP: rs142572218
rs142572218
0.030 GeneticVariation BEFREE Our objective in this study is to identify the prevalence of R1060W missense mutation in exon 24 ADAMTS13 in a sample of adult Egyptian TTP patients. 24401653

2014

dbSNP: rs142572218
rs142572218
0.030 GeneticVariation BEFREE 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