Locus 355

GWAS results
Target annotations
Locus annotations
Network

Top associations per target

Target	cis/trans	Study	SNP	SNP location	Maj/min allele	MAF	N	β_inv	se_inv	P_inv	fc_log	P_log	P_raw
GPVI	cis	Discovery	rs11672111	19:55,565,634	G/C	0.10	996	0.514	0.071	6.8×10^-13	1.150	4.4×10^-12	1.9×10^-13
GPVI	cis	Replication	rs11084387	19:55,565,352	G/A	0.10	337	0.099	0.059	0.097	1.080	0.058	0.514

Regional association plots

Platelet glycoprotein VI (GPVI)

Download the association data used to generate this plot

Boxplots and histograms for top associations

Platelet glycoprotein VI (GPVI)

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

Platelet glycoprotein VI (GPVI)

Target (abbrv.)	GPVI
Target (full name)	Platelet glycoprotein VI
Somalogic ID (Sequence ID)	SL008759 (3194-36_2)
Entrez Gene Symbol	GP6
UniProt ID	Q9HCN6
UniProt Comment	Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma-chain, the Src kinases (likely Fyn/Lyn), the adapter protein LAT and leads to the activation of phospholipase C gamma2.
Reactome	Cell surface interactions at the vascular wall GPVI-mediated activation cascade Platelet Adhesion to exposed collagen

All locus annotations are based on the sentinel SNP (rs11672111) and 21 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	RDH13 retinol dehydrogenase 13 (all-trans/9-cis) CTC-550B14.6 CTC-550B14.7
Potentially regulated genes	KIR3DL2 KIR3DL2 LILRB1 KIR2DP1 KIR3DL1 KIR2DL3 KIR3DL1 KIR2DL4 KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NLRP2 KIR3DL2 LILRP1 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 KIR3DL2 AC009892.10 KIR3DL2 KIR2DL1 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 KIR2DP1 KIR3DL2 KIR3DL2 KIR3DL3 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 LILRP1 KIR3DL3 KIR3DL2 KIR3DL3 AC011515.2 KIR3DL2 KIR3DL3 KIR3DL3 KIR2DP1 KIR2DL4 KIR2DS4 KIR3DL2 KIR2DL4 KIR2DS4 LILRA1 KIR2DL4 KIR3DL2 KIR2DL3 LILRP1 FCAR KIR3DL2 LILRB1 KIR2DL4 LILRA2 KIR2DL3 NLRP2 KIR3DL3 KIR3DL2 KIR3DL1 KIR2DS4 KIR2DL4 KIR3DL3 KIR2DL4 KIR2DL4 KIR3DL1 KIR2DL1 KIR3DL3 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 FCAR KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 NLRP2 KIR2DS4 LILRA1 FCAR KIR3DL1 KIR2DL3 LILRP1 KIR2DP1 KIR3DL2 KIR2DL3 KIR3DL2 KIR2DS4 KIR3DL2 LILRP1 KIR2DL4 NLRP2 FCAR KIR2DL4 KIR3DL1 KIR3DL3 KIR2DS4 KIR3DL3 KIR2DL1 AC009892.10 LILRP1 KIR3DL3 LILRP1 LILRP1 KIR3DL2 KIR3DL1 KIR2DP1 KIR3DL2 KIR3DL3 FCAR KIR2DL1 KIR2DS4 LILRP1 KIR2DP1 KIR3DL3 KIR3DL3 KIR2DS4 NLRP2 KIR3DL2 KIR2DL1 KIR2DL4 KIR2DL1 KIR2DL1 KIR2DL3 KIR3DL3 KIR2DL4 KIR2DS4 KIR2DP1 LILRP1 KIR2DL3 KIR2DL1 KIR2DS4 KIR2DS4 KIR2DP1 KIR3DL2 KIR3DL3 KIR2DS4 KIR3DL3 FCAR KIR2DL3 FCAR KIR3DL1 KIR3DL3 KIR2DP1 KIR3DL2 LILRP1 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 KIR3DL3 LILRB4 KIR2DS4 KIR2DL3 LILRA2 KIR2DL4 FCAR LILRP1 KIR2DL4 LILRP1 KIR2DL4 KIR2DL1 KIR2DL1 KIR3DL1 LILRB1 KIR3DL3 KIR2DL3 KIR2DL4 LILRA2 NLRP2 KIR2DL4 KIR2DP1 KIR2DL3 KIR3DL1 KIR2DL3 KIR2DL3 KIR3DL3 KIR2DS4 LILRB4 KIR2DL3 KIR3DL1 KIR3DL1 KIR2DL4 KIR2DL1 KIR3DL2 KIR3DL1 NLRP2 KIR2DS4 KIR2DP1 KIR2DL4 KIR2DL1 KIR2DS4 KIR2DL4 LILRP1 KIR2DL1 KIR2DL4 KIR3DL3 KIR2DS4 KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 KIR2DP1 KIR2DS4 KIR2DL3 KIR2DL4 KIR2DL3 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 KIR2DL1 LILRB4 KIR3DL2 KIR3DL1 KIR2DL1 KIR2DL4 VN1R105P vomeronasal 1 receptor 105 pseudogene KIR2DL1 KIR2DS4 LILRP1 LILRA1 KIR2DL3 KIR2DP1 KIR2DL4 KIR2DP1 LILRP1 KIR3DL2 KIR2DL4 KIR2DL1 LILRP1 KIR2DS4 KIR3DL3 KIR2DL4 KIR2DP1 KIR2DL1 KIR2DL3 LILRP1 KIR3DL1 FCAR NLRP2 KIR3DL1 LILRB1 KIR2DL1 KIR3DL2 KIR3DL2 KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 AC011515.2 LILRB4 LILRP1 KIR3DL3 KIR2DL1 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 KIR3DL2 LILRP1 KIR2DP1 KIR3DL3 KIR3DL3 KIR2DL1 NLRP2 AC009892.5 KIR3DL2 KIR2DL1 KIR2DP1 KIR3DL1 KIR3DL1 KIR3DL2 KIR2DL4 KIR2DL4 KIR2DL1 KIR3DL1 KIR3DL3 KIR3DL1 FCAR Fc fragment of IgA, receptor for KIR3DL3 NLRP2 NLR family, pyrin domain containing 2 KIR2DL3 KIR2DS4 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 KIR3DL3 KIR2DS4 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 KIR2DP1 KIR3DL2 KIR3DL3 KIR3DL1 KIR3DL3 KIR2DL4 KIR2DL1 CTC-550B14.1
eQTL genes	GP6 glycoprotein VI (platelet)

Results from other genome-wide association studies

Trait	P	Study	Source
lysoPC a C20:4 / PC aa C42:0	1.4×10^-8	20037589 (PMID)	GRASP2 metabQTL

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

ONLINE SUPPLEMENTARY INFORMATION

Locus 355

Top associations per target

Regional association plots

Platelet glycoprotein VI (GPVI)

Boxplots and histograms for top associations

Platelet glycoprotein VI (GPVI)

Platelet glycoprotein VI (GPVI)

Linked genes

Results from other genome-wide association studies