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WCMC

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

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Locus annotations

Locus 197

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Carbonic anhydrase XIII cis Discovery rs17741049 8:86,198,253 C/T 0.07 997 -0.744 0.080 7.9×10-20 -1.380 9.8×10-19 2.9×10-14

 

Regional association plots

Carbonic anhydrase 13 (Carbonic anhydrase XIII)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Carbonic anhydrase 13 (Carbonic anhydrase XIII)

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

Carbonic anhydrase 13 (Carbonic anhydrase XIII)

Target (abbrv.) Carbonic anhydrase XIII
Target (full name) Carbonic anhydrase 13
Somalogic ID (Sequence ID) SL004869 (3420-21_2)
Entrez Gene Symbol CA13
UniProt ID Q8N1Q1
UniProt Comment
  • Reversible hydration of carbon dioxide.
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 (rs17741049) and 35 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
Potentially regulated genes
  • CA1 carbonic anhydrase I
  • E2F5 E2F transcription factor 5, p130-binding
  • CA3 carbonic anhydrase III
eQTL genes
  • LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1

 

Results from other genome-wide association studies

Trait P Study Source
cg04207142 (chr8:86089082) 6.5×10-18 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg07736716 (chr8:86291664) 4.3×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg12112870 (chr8:86112955) 1.1×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg13721134 (chr8:86350414) 4.7×10-6 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Psoriasis and/or psoriatic arthritis 1.3×10-5 18369459 (PMID) GRASP2 nonQTL
Primary rhegmatogenous retinal detachment 9×10-5 23585552 (PMID) GRASP2 nonQTL
Triglycerides 4.9×10-4 19060906 (PMID) GRASP2 nonQTL