HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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

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