rs2990223

This is a coding sequence variant variant in the GBAP1 gene.

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GWAS Catalog Trait Associations (10)

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

P-selectin glycoprotein ligand 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.13
p 7.0e-135
N 47,745
Large GWAS
European

trefoil factor 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.09
p 7.0e-59
N 47,745
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 A
OR 0.02
p 7.0e-21
N 531,774
Large GWAS
European

stomach polyp

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.17
p 9.0e-21
N 507,612
Large GWAS
multi-ancestry

galectin-7 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 4.0e-17
N 47,745
Large GWAS
European

Agents acting on the renin-angiotensin system use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.08
p 8.0e-11
N 178,726
Large GWAS
East Asian

polyunsaturated fatty acids to total fatty acids percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

glomerular filtration rate

Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele G
OR 6.21
p 5.0e-10
N 350,514
Meta-analysisLarge GWAS
multi-ancestry

hematocrit

Hu Y et al. “Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.” American Journal of Human Genetics 108(5):874-893 (2021)
Allele A
OR 0.12
p 4.0e-9
N 62,487
Large 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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