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

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Locus annotations

Locus 232

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ASM3A cis Discovery rs28385609 6:123,122,464 C/T 0.14 993 -0.532 0.061 1.7×10-17 -1.100 1.5×10-9 0.002
ASM3A cis Replication rs13192569 6:123,127,597 G/A 0.21 337 -0.252 0.074 0.001 -1.090 0.002 0.049

 

Regional association plots

Acid sphingomyelinase-like phosphodiesterase 3a (ASM3A)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Acid sphingomyelinase-like phosphodiesterase 3a (ASM3A)

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

Acid sphingomyelinase-like phosphodiesterase 3a (ASM3A)

Target (abbrv.) ASM3A
Target (full name) Acid sphingomyelinase-like phosphodiesterase 3a
Somalogic ID (Sequence ID) SL012754 (4771-10_3)
Entrez Gene Symbol SMPDL3A
UniProt ID Q92484
UniProt Comment
  • Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:25288789, PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP (PubMed:25288789). Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates (PubMed:25288789, PubMed:26783088). Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine (PubMed:26783088). Does not have sphingomyelin phosphodiesterase activity (PubMed:25288789, PubMed:26783088).

All locus annotations are based on the sentinel SNP (rs28385609) and 3 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
  • SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A
Potentially regulated genes
  • SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A
eQTL genes
  • SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A

 

Results from other genome-wide association studies


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No associations available.