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

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Locus annotations

Locus 109

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 rs6697763 1:9,037,273 C/T 0.34 997 0.532 0.040 3×10-37 1.330 1.1×10-36 2.3×10-36
Carbonic anhydrase 6 cis Replication rs3765963 1:9,034,598 G/A 0.41 337 -0.373 0.071 3.2×10-7 -1.230 1.4×10-6 2×10-7

 

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 (rs6697763) and 1 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
  • RN7SL451P RNA, 7SL, cytoplasmic 451, pseudogene

 

Results from other genome-wide association studies

Trait P Study Source
PC aa C36:3 / Val-PTC 3.9×10-7 20037589 (PMID) GRASP2 metabQTL
Serum ratio of (glycodeoxycholate)/(taurolithocholate 3-sulfate) 1.5×10-5 21886157 (PMID) GRASP2 metabQTL
PC aa C36:3 2.7×10-4 20037589 (PMID) GRASP2 metabQTL