rs17720193

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GWAS Catalog Trait Associations (4)

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

erythrocyte volume

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 5.0e-121
N 696,882
Large 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 0.09
p 3.0e-95
N 480,305
Large GWAS
multi-ancestry
van Rooij FJA et al. “Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.” American Journal of Human Genetics 100(1):51-63 (2017)
Allele C
OR 0.01
p 7.0e-9
N 51,170
Meta-analysisLarge GWAS
multi-ancestry

red blood cell density

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 2.0e-31
N 727,624
Large GWAS
multi-ancestry

mean corpuscular hemoglobin

van Rooij FJA et al. “Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.” American Journal of Human Genetics 100(1):51-63 (2017)
Allele C
OR 0.01
p 4.0e-11
N 39,703
Meta-analysisLarge GWAS
multi-ancestry

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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