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WCMC

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

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Locus annotations

Locus 292

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
HCG cis Discovery rs753307 19:49,518,484 T/C 0.48 996 0.256 0.033 9.4×10-15 1.400 2.8×10-16 2.1×10-10
HCG cis Replication rs753307 19:49,518,484 G/A 0.45 337 -0.219 0.058 2.1×10-4 -1.290 1.1×10-4 0.088

 

Regional association plots

 

Boxplots and histograms for top associations

Human Chorionic Gonadotropin (HCG)

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

Human Chorionic Gonadotropin (HCG)

Target (abbrv.) HCG
Target (full name) Human Chorionic Gonadotropin
Somalogic ID (Sequence ID) SL001766 (4914-10_1)
Entrez Gene Symbol CGA, CGB
UniProt ID P01215, P01233
UniProt Comment
  • P01215: Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.
  • P01233: Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy.
Reactome
  • Glycoprotein hormones

All locus annotations are based on the sentinel SNP (rs753307) and 11 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg12062282 (chr19:49524252) 1.1×10-34 10.1101/033084 (DOI) BIOS QTL cis-meQTLs