rs1991651

This is a downstream gene variant variant in the LOC101929248 gene.

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GWAS Catalog Trait Associations (7)

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

neutrophil 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 G
OR —
p 1.0e-29
N 627,215
Large GWAS
multi-ancestry
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 G
OR 0.03
p 4.0e-13
N 170,702
Large GWAS
European

systolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele C
OR 0.40
p 2.0e-27
N 526,001
Large GWAS
European

age at first sexual intercourse measurement

Mills MC et al. “Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour.” Nature Human Behaviour 5(12):1717-1730 (2021)
Allele C
OR 0.02
p 2.0e-17
N 397,338
Large GWAS
European

neutrophil count, basophil 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 G
OR 0.03
p 3.0e-13
N 170,143
Large GWAS
European

myeloid leukocyte 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 G
OR 0.03
p 5.0e-13
N 169,219
Large GWAS
European

granulocyte 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 G
OR 0.03
p 1.0e-12
N 169,822
Large GWAS
European

neutrophil count, eosinophil 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 G
OR 0.03
p 2.0e-12
N 170,384
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.

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