rs11065987
This is a intergenic variant variant.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hemoglobin measurement
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele A
OR —
β 0.055
p 6.0e-135
N 684,122
Large GWAS
European
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele A
OR 0.06
p 1.0e-11
N 24,167
Major Consortium StudyLarge GWAS
European
body mass index
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 6.0e-23
N 1,122,049
Large GWAS
European
Hoffmann TJ et al. “A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.” Genetics 210(2):499-515 (2018)
Allele G
OR —
β 0.015
p 4.0e-9
N 334,487
Large GWAS
multi-ancestry
Winkler TW et al. “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” Plos Genetics 11(10):e1005378 (2015)
Allele G
OR —
β 0.019
p 2.0e-11
N 309,889
Large GWAS
European
total cholesterol measurement
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.031
p 2.0e-16
N 94,595
Large GWAS
European
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 0.96
p 7.0e-12
N 100,184
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.029
p 3.0e-10
N 94,674
Large GWAS
multi-ancestry
hematocrit
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele G
OR 0.17
p 1.0e-12
N 24,167
Major Consortium StudyLarge GWAS
European
low density lipoprotein cholesterol measurement
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.027
p 1.0e-11
N 94,595
Large GWAS
European
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 0.97
p 2.0e-9
N 95,454
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.029
p 9.0e-10
N 94,674
Large GWAS
multi-ancestry
omega-6 polyunsaturated fatty acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 6.0e-11
N 128,922
Large GWAS
European
Tetralogy of Fallot
Cordell HJ et al. “Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.” Human Molecular Genetics 22(7):1473-81 (2013)
Allele G
OR 1.34
p 8.0e-11
N 5,994
Large GWAS
European
linoleic acid measurement
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 5.0e-10
N 128,922
Large GWAS
European
asthma
Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele A
OR 1.03
p 3.0e-8
N 303,859
Large GWAS
European
primary biliary cirrhosis
Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele G
OR 1.19
p 3.0e-8
N 13,239
Meta-analysisLarge GWAS
European
▶Research that mentions this SNP (1)
▶A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effectsAssociationN=13,582Khader Shameer et al.(2014)· Human Genetics
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
AssociationN=13,582Khader Shameer et al.(2014)· Human Genetics
A genome-wide association study (GWAS) of platelet count (PLT) and mean platelet volume (MPV) in 13,582 and 6,291 participants respectively from the eMERGE network identified 5 chromosomal regions associated with PLT and 8 with MPV at genome-wide significance (P<5E-8). Key findings include variants in ARHGEF3 (rs1354034, P=6E-24 for PLT; P=9E-34 for MPV), SH2B3 (rs3184504, P=5E-12), and multiple other loci. The study replicated 20 SNPs for PLT and 22 for MPV from prior meta-analyses and demonstrated pleiotropic effects with myocardial infarction, autoimmune, and hematologic disorders through phenome-wide association study (PheWAS).
Traits studied:Autoimmune disordersBlood pressureEosinophil countHematologic disordersMean platelet volume (MPV)Myocardial infarctionPlatelet count (PLT)Type 1 diabetes
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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