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WCMC

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

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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)

Download the association data used to generate this plot

 

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


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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