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WCMC

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

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Locus annotations

Locus 430

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PPAC cis Discovery rs300703 2:239,416 T/C 0.10 996 -0.491 0.073 3.8×10-11 -1.440 3.1×10-12 3.3×10-10
PPAC cis Replication rs10167992 2:263,270 G/A 0.09 337 -0.294 0.107 0.006 -1.340 0.002 0.003

 

Regional association plots

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

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

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

Target (abbrv.) PPAC
Target (full name) Low molecular weight phosphotyrosine protein phosphatase
Somalogic ID (Sequence ID) SL008063 (3858-5_1)
Entrez Gene Symbol ACP1
UniProt ID P24666
UniProt Comment
  • Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity.
Pathway Interaction Database
  • EPHA2 forward signaling

All locus annotations are based on the sentinel SNP (rs300703) and 20 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
Potentially regulated genes
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg18672716 (chr2:193232) 1.6×10-22 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg14123882 (chr2:365507) 1.3×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
HOMA-IR 2.7×10-5 17903298 (PMID) GRASP2 nonQTL
Serum ratio of (alpha-hydroxyisovalerate)/(hydroquinone sulfate) 7.4×10-5 21886157 (PMID) GRASP2 metabQTL
Major depressive disorder (broad definition) (females) 3.5×10-4 20038947 (PMID) GRASP2 nonQTL