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WCMC

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

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Locus annotations

Locus 344

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ASAH2 cis Discovery rs2338747 10:48,005,276 A/G 0.13 997 -0.468 0.063 3.3×10-13 -1.180 6.2×10-13 3.8×10-7

 

Regional association plots

 

Boxplots and histograms for top associations

Neutral ceramidase (ASAH2)

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

Neutral ceramidase (ASAH2)

Target (abbrv.) ASAH2
Target (full name) Neutral ceramidase
Somalogic ID (Sequence ID) SL010375 (3212-30_3)
Entrez Gene Symbol ASAH2
UniProt ID Q9NR71
UniProt Comment
  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5. Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract.
Reactome
  • Glycosphingolipid metabolism

All locus annotations are based on the sentinel SNP (rs2338747) and 4 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

 

Results from other genome-wide association studies

No associations available.