rs9399137

This is a intron variant variant.

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GWAS Catalog Trait Associations (21)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

hematocrit

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.06
p 1.0e-265
N 503,490
Large GWAS
multi-ancestry

platelet count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.10
p 4.0e-182
N 148,623
Large GWAS
East Asian
Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele C
OR 5.90
p 5.0e-47
N 48,666
Large GWAS
European
Khader Shameer et al. “A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects” Human Genetics (2014)
Allele C
OR 5.51
p 8.0e-10
N 13,582
Large GWAS
European
Ferreira MA et al. “Sequence variants in three loci influence monocyte counts and erythrocyte volume.” American Journal of Human Genetics 85(5):745-9 (2009)
Allele C
OR 0.16
p 1.0e-9
N 6,015
Large GWAS
European

high density lipoprotein cholesterol measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 2.0e-94
N 394,642
Large GWAS
European

aspartate aminotransferase measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.03
p 6.0e-57
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 2.0e-11
N 150,068
Large GWAS
East Asian

monocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.05
p 3.0e-47
N 259,625
Major Consortium StudyLarge GWAS
European

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.03
p 3.0e-44
N 1,320,016
Large GWAS
European

mitochondrial DNA measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele T
OR 0.06
p 4.0e-44
N 163,372
Large GWAS
multi-ancestry

HbA1c measurement

Gu Y et al. “Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies.” Nature Communications 16(1):4178 (2025)
Allele T
OR 0.13
p 3.0e-37
N 69,269
Large GWAS
East Asian
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.04
p 1.0e-29
N 492,335
Major Consortium StudyLarge GWAS
multi-ancestry
Chen P et al. “Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.” Diabetes 63(7):2551-62 (2014)
Allele T
OR 0.07
p 9.0e-15
N 19,017
Large GWAS
multi-ancestry
Appel EVR et al. “Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population.” European Journal of Human Genetics : Ejhg 26(6):868-875 (2018)
Allele T
OR 0.13
p 4.0e-13
N 4,049
Large GWAS
European

pyruvate measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 6.0e-28
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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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
PubMedDOIMetascience Observatory
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A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E
AssociationN=792Manit Nuinoon et al.(2010)· Human Genetics

A genome-wide association study identified 23 SNPs in three independent regions significantly associated with disease severity in β0-thalassemia/hemoglobin E disease. The strongest associations were with rs2071348 in the β-globin cluster (P = 2.96 × 10⁻¹³, OR = 4.33), rs9376092 in HBS1L-MYB intergenic region (P = 2.36 × 10⁻¹⁰, OR = 3.07), and rs766432 in BCL11A (P = 5.87 × 10⁻¹⁰, OR = 3.06). These genetic variants influence fetal hemoglobin levels, a major disease severity modifier, and findings were replicated in an independent Indonesian cohort.

Traits studied:Erythrocyte countFetal hemoglobin (HbF) levelsHbA2 levelHbE levelHemoglobin levelMonocyte countPlatelet countβ0-thalassemia/hemoglobin E disease severity
PubMedDOIMetascience Observatory

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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