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

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Locus annotations

Locus 289

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Carbonic anhydrase 6 cis Discovery rs6665631 1:8,978,514 A/G 0.28 995 0.360 0.046 8.1×10-15 1.220 1.1×10-14 8.1×10-14
Carbonic anhydrase 6 cis Replication rs6682376 1:8,972,122 A/G 0.35 337 0.211 0.077 0.007 1.130 0.008 0.003

 

Regional association plots

 

Boxplots and histograms for top associations

Carbonic anhydrase 6

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

Carbonic anhydrase 6

Target (abbrv.) Carbonic anhydrase 6
Target (full name) Carbonic anhydrase 6
Somalogic ID (Sequence ID) SL010288 (3352-80_3)
Entrez Gene Symbol CA6
UniProt ID P23280
UniProt Comment
  • Reversible hydration of carbon dioxide. Its role in saliva is unknown.
Targeted by drugs (based on IPA annotation)
  • methazolamide
  • hydrochlorothiazide
  • acetazolamide
  • trichloromethiazide
  • chlorothiazide
  • chlorthalidone
  • benzthiazide
  • sulfacetamide
  • topiramate
Reactome
  • Reversible hydration of carbon dioxide

All locus annotations are based on the sentinel SNP (rs6665631) and 12 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


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Genes hit or close-by

 

Results from other genome-wide association studies

Trait P Study Source
Serum ratio of (phenylacetate)/(trans-4-hydroxyproline) 2.3×10-5 21886157 (PMID) GRASP2 metabQTL