rs34164109

This is a intron variant variant.

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GWAS Catalog Trait Associations (13)

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

hematocrit

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 —
N 737,823
Large GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.10
p —
N 408,112
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 T
OR 0.08
p 1.0e-277
N 485,950
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 T
OR 0.08
p 7.0e-219
N 394,642
Large GWAS
European

platelet count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.16
p —
N 408,112
Large GWAS
European
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 5.0e-249
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 T
OR 0.13
p 6.0e-248
N 153,950
Large GWAS
East Asian
Burley K et al. “PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry.” Research and Practice in Thrombosis and Haemostasis 7(4):100175 (2023)
Allele T
OR 0.13
p 3.0e-15
N 20,218
Large GWAS
South Asian

hemoglobin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 3.0e-228
N 394,642
Large GWAS
European

mean reticulocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 3.0e-176
N 394,642
Large GWAS
European

lymphocyte 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 T
OR —
p 5.0e-81
N 643,370
Large GWAS
multi-ancestry

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 T
OR 0.05
p 2.0e-30
N 170,690
Large GWAS
European

leukocyte quantity

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 0.04
p 2.0e-28
N 154,355
Large GWAS
East Asian

transferrin saturation 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 C
OR 0.07
p 2.0e-20
N 55,782
Major Consortium StudyLarge GWAS
European

erythrocyte count

Hodonsky CJ et al. “Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.” Plos Genetics 13(4):e1006760 (2017)
Allele C
OR 0.05
p 4.0e-17
N 12,502
Large 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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