Connecting genetic risk to disease endpoints through the human blood plasma proteome
ONLINE SUPPLEMENTARY INFORMATION
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 |
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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 |
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| Reactome |
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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 |
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Results from other genome-wide association studies
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No associations available.