rs9402686

This is a upstream gene variant variant in the LOC105378010 gene.

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GWAS Catalog Trait Associations (11)

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

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.12
p —
N 408,112
Large GWAS
European

erythrocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.06
p 1.0e-195
N 394,642
Large GWAS
European
Read RW et al. “GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort.” Plos One 14(6):e0218078 (2019)
Allele A
OR 0.65
p 5.0e-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 A
OR 0.82
p 7.0e-42
N 4,627
Meta-analysisMajor Consortium Study
European

erythrocyte 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 G
OR 0.15
p 4.0e-65
N 114,767
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

Red cell distribution width

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 G
OR 0.14
p 1.0e-48
N 110,610
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele G
OR 0.08
p 6.0e-14
N 38,000
Large GWAS
South Asian

mean corpuscular hemoglobin concentration

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 G
OR 0.07
p 3.0e-19
N 114,841
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

low density lipoprotein cholesterol measurement

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 G
OR 0.02
p 1.0e-14
N 578,857
Major Consortium StudyLarge GWAS
multi-ancestry

diastolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.11
p 1.0e-11
N 1,164,961
Meta-analysisLarge GWAS
European

L-arginine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele G
OR 6.33
p 2.0e-10
N 30,724
Large GWAS
European

erythrocyte attribute

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 0.05
p 1.0e-9
N 30,551
Large GWAS
European

platelet count

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 G
OR 6.19
p 7.0e-39
N 61,200
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 G
OR 0.06
p 2.0e-17
N 55,712
Major Consortium StudyLarge GWAS
Hispanic or Latin American

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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