HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 320

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
a1-Antitrypsin cis Discovery rs4905179 14:94,795,492 A/G 0.19 994 -0.404 0.053 7.7×10-14 -1.100 2.2×10-10 0.002
a1-Antitrypsin cis Replication rs926144 14:94,813,402 A/G 0.13 337 -0.236 0.119 0.049 -1.020 0.398 0.877


Regional association plots

Alpha-1-antitrypsin (a1-Antitrypsin)


Boxplots and histograms for top associations

Alpha-1-antitrypsin (a1-Antitrypsin)

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

Alpha-1-antitrypsin (a1-Antitrypsin)

Target (abbrv.) a1-Antitrypsin
Target (full name) Alpha-1-antitrypsin
Somalogic ID (Sequence ID) SL000249 (3580-25_8)
Entrez Gene Symbol SERPINA1
UniProt ID P01009
UniProt Comment
  • Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • unspecified application
Wiki Pathways
  • Complement and Coagulation Cascades
Pathway Interaction Database
  • FOXA1 transcription factor network
  • p73 transcription factor network
  • Platelet degranulation

All locus annotations are based on the sentinel SNP (rs4905179) and 8 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
  • SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
eQTL genes
  • SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1


Results from other genome-wide association studies

Trait P Study Source
cg13251292 (chr14:94790088) 1.8×10-62 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
LDL cholesterol 5.6×10-7 24097068 (PMID) Supplemental file
Breast size 8×10-7 22747683 (PMID) GWAS Catalog via SNiPA
Breast size (bra cup size in women) 9.9×10-7 22747683 (PMID) GRASP2 nonQTL
Triglycerides 1.1×10-6 24097068 (PMID) Supplemental file
Emphysema (in chronic obstructive pulmonary disease patients) 9.8×10-6 20709820 (PMID) GRASP2 nonQTL
Gene expression of SERPINA1 in blood 2.3×10-5 21829388 (PMID) GRASP2 eQTL
Total cholesterol 2×10-4 20686565 (PMID) GRASP2 nonQTL