rs1172113

▶

GWAS Catalog Trait Associations (5)

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

erythrocyte volume

Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)
Allele T
OR —
β 0.160
p 3.0e-49
N 362,595
Large GWAS
European

mean corpuscular hemoglobin concentration

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 0.03
p 6.0e-47
N 491,553
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 0.03
p 5.0e-39
N 408,112
Large GWAS
European
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-18
N 394,642
Large GWAS
European

reticulocyte amount

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 0.03
p 5.0e-40
N 394,642
Large GWAS
European

mean corpuscular hemoglobin

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 1.0e-37
N 408,112
Large GWAS
European

immature reticulocyte 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 C
OR 0.05
p 2.0e-13
N 38,711
Large GWAS
European

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…