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

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Locus annotations

Locus 400

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 rs3765967 1:9,011,627 G/A 0.09 996 -0.478 0.069 6.1×10-12 -1.300 3.1×10-12 5.3×10-10
Carbonic anhydrase 6 cis Replication rs72641545 1:9,004,120 A/G 0.15 337 -0.551 0.096 2.1×10-8 -1.400 6.1×10-9 6.1×10-5

 

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 (rs3765967) and 5 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
  • CA6 carbonic anhydrase VI
Potentially regulated genes
  • RERE arginine-glutamic acid dipeptide (RE) repeats
  • CA6 carbonic anhydrase VI

 

Results from other genome-wide association studies

Trait P Study Source
Serum ratio of (3-methylxanthine)/(allantoin) 3×10-4 21886157 (PMID) GRASP2 metabQTL