rs721917

This is a variant in the SFTPD gene that changes a methionine to an threonine.

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GWAS Catalog Trait Associations (5)

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

pulmonary surfactant-associated protein d measurement

Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele G
OR 0.75
p 2.0e-122
N 1,239
Large GWAS
multi-ancestry
Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele G
OR 0.58
p 5.0e-25
N 496
Small GWAS
European

chronic obstructive pulmonary disease

Cosentino J et al. “Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models.” Nature Genetics 55(5):787-795 (2023)
Allele A
OR 0.02
p 6.0e-14
N 325,027
Large GWAS
European
Sakornsakolpat P et al. “Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.” Nature Genetics 51(3):494-505 (2019)
Allele A
OR 1.06
p 2.0e-8
N 257,811
Large GWAS
European, East Asian, African American or Afro-Caribbean, Hispanic or Latin American, NR
Hobbs BD et al. “Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.” Nature Genetics 49(3):426-432 (2017)
Allele A
OR 1.08
p 2.0e-8
N 58,918
Large GWAS
multi-ancestry

COVID-19

“A first update on mapping the human genetic architecture of COVID-19.” Nature 608(7921):E1-E10 (2022)
Allele A
OR 1.06
p 2.0e-8
N 2,861,299
Large GWAS
multi-ancestry
Pairo-Castineira E et al. “GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.” Nature 617(7962):764-768 (2023)
Allele A
OR 0.93
p 8.0e-9
N 1,779,771
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variants in surfactant, pulmonary-associated protein D (SFTPD) and Japanese susceptibility to ulcerative colitis
AssociationN=864Michihiro Tanaka et al.(2009)· Inflammatory Bowel Diseases

A case-control association study in Japanese population examining SFTPD variants and susceptibility to ulcerative colitis (UC). The minor allele G of rs911887 showed significant association with UC (p=9E-4). A haplotype comprising rs911887 and rs2243639 (Ala160Thr) was significantly associated with UC susceptibility (p=7E-4), and NKX2-3 association was replicated.

Traits studied:Crohn's diseaseInflammatory bowel diseaseUlcerative colitis
PubMedDOIMetascience Observatory

About SFTPD

The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]

View all SFTPD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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