HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 371

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ATS13 cis Discovery rs4962130 9:136,195,607 T/C 0.01 996 -1.308 0.182 1.3×10-12 -1.390 6×10-16 9×10-12

 

Regional association plots

A disintegrin and metalloproteinase with thrombospondin motifs 13 (ATS13)

 

Boxplots and histograms for top associations

A disintegrin and metalloproteinase with thrombospondin motifs 13 (ATS13)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study

A disintegrin and metalloproteinase with thrombospondin motifs 13 (ATS13)

Target (abbrv.) ATS13
Target (full name) A disintegrin and metalloproteinase with thrombospondin motifs 13
Somalogic ID (Sequence ID) SL006610 (3175-51_5)
Entrez Gene Symbol ADAMTS13
UniProt ID Q76LX8
UniProt Comment
  • Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.
Reactome
  • O-glycosylation of TSR domain-containing proteins

All locus annotations are based on the sentinel SNP (rs4962130) and 1 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by

 

Results from other genome-wide association studies

No associations available.