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

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Locus annotations

Locus 326

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
complement factor H-related 5 cis Discovery rs35908703 1:196,692,940 T/C 0.06 993 -0.712 0.094 8.8×10-14 -1.240 7.7×10-18 2×10-10
Factor H cis Discovery rs35908703 1:196,692,940 T/C 0.06 993 -0.612 0.088 5.8×10-12 -1.060 3×10-11 1.8×10-11

 

Regional association plots

Complement factor H-related protein 5 (complement factor H-related 5)

Download the association data used to generate this plot

Complement factor H (Factor H)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Complement factor H-related protein 5 (complement factor H-related 5)

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

Complement factor H (Factor H)

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

Complement factor H-related protein 5 (complement factor H-related 5)

Target (abbrv.) complement factor H-related 5
Target (full name) Complement factor H-related protein 5
Somalogic ID (Sequence ID) SL006830 (3666-17_4)
Entrez Gene Symbol CFHR5
UniProt ID Q9BXR6
UniProt Comment
  • Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.

Complement factor H (Factor H)

Target (abbrv.) Factor H
Target (full name) Complement factor H
Somalogic ID (Sequence ID) SL000415 (4159-130_1)
Entrez Gene Symbol CFH
UniProt ID P08603
UniProt Comment
  • Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.
Biomarker applications (based on IPA annotation)
  • unspecified application
Reactome
  • Regulation of Complement cascade
Pathway Studio
  • Alternative Complement Pathway

All locus annotations are based on the sentinel SNP (rs35908703) 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

Genes hit or close-by
  • CFH complement factor H