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WCMC

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

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Locus annotations

Locus 237

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IMDH2 trans Discovery rs1005776 14:102,896,673 G/A 0.30 997 0.399 0.046 3.2×10-17 1.050 2.9×10-13 2×10-8
IMDH2 trans Replication rs1005776 14:102,896,673 G/A 0.36 337 0.105 0.048 0.028 1.020 0.115 0.398

 

Regional association plots

Inosine-5'-monophosphate dehydrogenase 2 (IMDH2)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Inosine-5'-monophosphate dehydrogenase 2 (IMDH2)

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

Inosine-5'-monophosphate dehydrogenase 2 (IMDH2)

Target (abbrv.) IMDH2
Target (full name) Inosine-5'-monophosphate dehydrogenase 2
Somalogic ID (Sequence ID) SL010928 (5250-53_3)
Entrez Gene Symbol IMPDH2
UniProt ID P12268
UniProt Comment
  • Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.
Targeted by drugs (based on IPA annotation)
  • thioguanine
  • VX-944
  • pegintron/ribavirin
  • interferon alfa-2b/ribavirin
  • mycophenolate mofetil
  • mycophenolic acid
  • ribavirin

All locus annotations are based on the sentinel SNP (rs1005776) 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
  • AL137229.1
  • ZNF839 zinc finger protein 839
  • CINP cyclin-dependent kinase 2 interacting protein
  • TECPR2 tectonin beta-propeller repeat containing 2