rs1668871

This variant is located in the TMCC2 gene.

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GWAS Catalog Trait Associations (3)

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

platelet 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 —

p 3.0e-141

N 721,201

Large GWAS

multi-ancestry

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 0.05

p 2.0e-46

N 582,835

Major Consortium StudyLarge 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 C

OR 0.05

p 1.0e-98

N 499,097

Large GWAS

multi-ancestry

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 4.0e-140

N 394,642

Large GWAS

European

Little A et al. “Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.” Human Molecular Genetics 31(3):347-361 (2022)

Allele C

OR 2.67

p 2.0e-10

N 61,200

Large GWAS

multi-ancestry

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)

Allele C

OR 2.80

p 3.0e-14

N 48,666

Large GWAS

European

platelet quantity

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele C

OR 0.12

p 4.0e-52

N 29,662

Large GWAS

European

platelet volume

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 0.13

p 1.0e-86

N 97,007

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

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 T

OR 0.13

p 6.0e-12

N 10,737

Large GWAS

African American or Afro-Caribbean, African unspecified

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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

About TMCC2

Involved in amyloid precursor protein metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

rs1668871

GWAS Catalog Trait Associations (3)

platelet count

platelet quantity

platelet volume

Research that mentions this SNP (1)

About TMCC2

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