HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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

No associations available.