HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 128

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
SREC-I cis Discovery rs8071756 17:1,574,342 A/G 0.22 997 0.590 0.049 9.4×10-31 1.090 2.6×10-31 7.9×10-31
SREC-I cis Replication rs16951086 17:1,578,748 A/G 0.21 337 0.200 0.058 0.001 1.060 1.3×10-4 0.001

 

Regional association plots

Scavenger receptor class F member 1 (SREC-I)

 

Boxplots and histograms for top associations

Scavenger receptor class F member 1 (SREC-I)

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

Scavenger receptor class F member 1 (SREC-I)

Target (abbrv.) SREC-I
Target (full name) Scavenger receptor class F member 1
Somalogic ID (Sequence ID) SL005221 (5129-12_3)
Entrez Gene Symbol SCARF1
UniProt ID Q14162
UniProt Comment
  • Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth (By similarity).
Reactome
  • Scavenging by Class F Receptors

All locus annotations are based on the sentinel SNP (rs8071756) and 13 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

 

Results from other genome-wide association studies

Trait P Study Source
cg14131824 (chr17:1490463) 1×10-13 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Differential exon level expression of PRPF8 [probe 3740523] in peripheral blood mononuclear cells 1.1×10-9 19222302 (PMID) GRASP2 eQTL
cg03181117 (chr17:1543212) 1.7×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Differential splicing of PRPF8 [probeset 3740522] in lymphoblastoid cell lines 2×10-8 19052777 (PMID) GRASP2 eQTL
cg11998307 (chr17:1549458) 1.6×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Differential exon level expression of PRPF8 [probe 3740523] in brain cortex 4.1×10-5 19222302 (PMID) GRASP2 eQTL