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

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Locus annotations

Locus 384

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Afamin cis Discovery rs41265665 4:74,361,142 G/A 0.03 989 -0.862 0.122 3×10-12 -1.160 9.9×10-13 8.5×10-11
Afamin cis Replication rs72856648 4:74,361,270 G/A 0.07 337 -0.904 0.134 7.7×10-11 -1.240 2.2×10-9 7.4×10-9

 

Regional association plots

 

Boxplots and histograms for top associations

Afamin

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

Afamin

Target (abbrv.) Afamin
Target (full name) Afamin
Somalogic ID (Sequence ID) SL004742 (4763-31_3)
Entrez Gene Symbol AFM
UniProt ID P43652
UniProt Comment
  • Vitamin E binding protein. May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient. May be involved in the regulation and transport of vitamin E at the blood-brain barrier.

All locus annotations are based on the sentinel SNP (rs41265665) and 51 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
  • AFM afamin
  • AFP alpha-fetoprotein
eQTL genes
  • RASSF6 Ras association (RalGDS/AF-6) domain family member 6

 

Results from other genome-wide association studies


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No associations available.