rs116483731

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GWAS Catalog Trait Associations (7)

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

idiopathic pulmonary fibrosis

Dhindsa RS et al. “Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.” Communications Biology 4(1):392 (2021)
Allele A
OR —
p 2.0e-20
N 119,807
Large GWAS
European
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.79
p 2.0e-15
N 953,873
Meta-analysisLarge GWAS
European

interstitial lung disease

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.81
p 2.0e-11
N 647,847
Large GWAS
multi-ancestry

hypothyroidism

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele A
OR 0.10
p 4.0e-10
N 2,444,128
Large GWAS
multi-ancestry

pulmonary fibrosis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.91
p 6.0e-9
N 646,226
Large GWAS
multi-ancestry

prostate carcinoma

Wang A et al. “Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.” Nature Genetics 55(12):2065-2074 (2023)
Allele G
OR 1.31
p 7.0e-17
N 726,828
Large GWAS
European

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.09
p 2.0e-9
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.05
p 1.0e-14
N 180,094
Large GWAS
European

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele A
OR 0.08
p 4.0e-8
N 235,096
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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