rs8073060

This variant is located in the SLFN14 gene.

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GWAS Catalog Trait Associations (5)

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

platelet component distribution width

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 A
OR 0.06
p 6.0e-48
N 164,433
Large GWAS
European

immature platelet measurement

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 A
OR 0.07
p 1.0e-17
N 36,829
Large GWAS
European

platelet count

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 A
OR 0.03
p 9.0e-14
N 166,066
Large GWAS
European

reticulocyte count

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 A
OR 0.03
p 1.0e-10
N 170,548
Large GWAS
European

Red cell distribution width

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 —
p 1.0e-36
N 563,352
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 0.02
p 5.0e-21
N 408,112
Large GWAS
European
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 0.03
p 2.0e-11
N 110,610
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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ClinVar annotation

Benign★★★☆
4 submitters1 publication

not provided; Platelet-type bleeding disorder 20; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure
AssociationN=1,428Hannu Turpeinen et al.(2015)· Human Genetics

A genome-wide eQTL analysis in >1400 blood samples identified 10 independent loci regulating proprotein convertase (PCSK) gene expression, with rs4702 as a novel cis-eQTL for FURIN showing genome-wide significance (p=6.14e-10). The rs4702 AA genotype was significantly associated with increased diastolic (p=0.012) and systolic (p=0.035) blood pressure, as well as systemic vascular resistance (p=0.003), with effect sizes of ~0.75 mmHg diastolic and ~1.0 mmHg systolic per coded allele.

Traits studied:Blood pressure (systolic and diastolic)Cardiac outputHeart ratePCSK gene expression (eQTL)Stroke volumeSystemic vascular resistance
PubMedDOIMetascience Observatory

About SLFN14

The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

View all SLFN14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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