rs2076295
This is a intron variant variant in the DSP gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
idiopathic pulmonary fibrosis
Allen RJ et al. “Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis.” Thorax 77(8):829-833 (2022)
Allele G
OR 1.49
p 2.0e-48
N 24,589
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 G
OR 0.15
p 1.0e-18
N 1,254,748
Meta-analysisLarge GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.28
p 4.0e-20
N 449,368
Major Consortium StudyLarge GWAS
European
Allen RJ et al. “Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.” American Journal of Respiratory and Critical Care Medicine 201(5):564-574 (2020)
Allele G
OR 1.46
p 3.0e-30
N 11,259
Large GWAS
European
Allen RJ et al. “Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study.” The Lancet. Respiratory Medicine 5(11):869-880 (2017)
Allele G
OR 1.44
p 8.0e-28
N 3,968
Large GWAS
European
FEV/FVC ratio
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele T
OR 10.72
p 8.0e-27
N 588,452
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 3.0e-19
N 394,642
Large GWAS
European
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele T
OR 0.02
p 7.0e-23
N 321,047
Large GWAS
European
interstitial lung disease
Fingerlin TE et al. “Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.” Nature Genetics 45(6):613-20 (2013)
Allele G
OR 1.43
p 1.0e-19
N 5,844
Large GWAS
European
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 0.15
p 8.0e-10
N 647,847
Large GWAS
multi-ancestry
level of advanced glycosylation end product-specific receptor in blood
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-13
N 47,745
Large GWAS
European
level of alkaline phosphatase, placental type in blood
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 0.03
p 5.0e-13
N 47,745
Large GWAS
European
advanced glycosylation end product-specific receptor amount
Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele T
OR —
β 0.056
p 3.0e-10
N 21,758
Large GWAS
European
chronic obstructive pulmonary disease
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 T
OR 1.09
p 4.0e-9
N 58,918
Large GWAS
multi-ancestry
vital capacity
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele T
OR 0.01
p 2.0e-8
N 321,047
Large GWAS
European
postinflammatory pulmonary fibrosis
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.20
p 2.0e-23
N 444,066
Major Consortium StudyLarge GWAS
European
respiratory system disease
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.25
p 7.0e-29
N 447,762
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Association★☆☆☆
2 submittersChronic obstructive pulmonary disease; Combined pulmonary fibrosis-emphysema syndrome; Interstitial lung disease 2 (ILD2); Susceptibility to severe coronavirus disease (COVID-19)
View on ClinVar →About DSP
This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
View all DSP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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