rs385893

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GWAS Catalog Trait Associations (34)

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

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 0.09

p —

N 499,097

Large GWAS

multi-ancestry

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)

Allele C

OR —

p 4.0e-243

N 235,256

Large GWAS

European

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 C

OR 0.10

p 1.0e-109

N 153,950

Large GWAS

East Asian

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR 0.08

p 2.0e-75

N 145,648

Large GWAS

East Asian

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)

Allele C

OR 0.13

p 2.0e-18

N 72,816

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 C

OR 0.08

p 3.0e-34

N 55,712

Major Consortium StudyLarge GWAS

Hispanic or Latin American

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)

Allele C

OR 0.10

p 3.0e-13

N 14,806

Large GWAS

East Asian

Read RW et al. “GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort.” Plos One 14(6):e0218078 (2019)

Allele C

OR 7.74

p 8.0e-10

N 4,675

Large GWAS

multi-ancestry

Soranzo N et al. “A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.” Nature Genetics 41(11):1182-90 (2009)

Allele C

OR 6.26

p 9.0e-17

N 4,627

Meta-analysisMajor Consortium Study

European

platelet-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)

Allele T

OR —

p 6.0e-109

N 234,552

Large GWAS

European

platelet glycoprotein Ib alpha chain level

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 0.09

p 9.0e-65

N 47,745

Large GWAS

European

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele C

OR 0.13

p 4.0e-23

N 10,708

Large GWAS

European

level of syndecan-4 in blood

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 0.07

p 6.0e-46

N 47,745

Large GWAS

European

neutrophil count

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 0.02

p 1.0e-35

N 394,642

Large GWAS

European

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR 0.02

p 8.0e-34

N 519,288

Large GWAS

European

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 0.02

p 2.0e-27

N 432,666

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 2.0e-15

N 408,112

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele C

OR 0.03

p 4.0e-13

N 170,702

Large GWAS

European

lymphocyte percentage of leukocytes

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 0.02

p 2.0e-35

N 394,642

Large GWAS

European

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 3.0e-11

N 408,112

Large GWAS

European

neutrophil percentage of leukocytes

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 0.02

p 2.0e-33

N 394,642

Large GWAS

European

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 8.0e-23

N 408,112

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele C

OR 0.02

p 8.0e-12

N 171,542

Large GWAS

European

acetate 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 0.02

p 1.0e-24

N 450,015

Large GWAS

multi-ancestry

myeloid leukocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR 0.02

p 5.0e-22

N 562,243

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele C

OR 0.03

p 2.0e-13

N 169,219

Large GWAS

European

leukocyte quantity

Allele T

OR 0.01

p 7.0e-22

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 5.0e-16

N 504,825

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele T

OR 0.01

p 3.0e-9

N 408,112

Large GWAS

European

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Research that mentions this SNP (1)

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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

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs385893

GWAS Catalog Trait Associations (34)

platelet count

platelet-to-lymphocyte ratio

platelet glycoprotein Ib alpha chain level

level of syndecan-4 in blood

neutrophil count

lymphocyte percentage of leukocytes

neutrophil percentage of leukocytes

acetate measurement

myeloid leukocyte count

leukocyte quantity

Research that mentions this SNP (1)

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