rs2571445
This is a variant in the TNS1 gene that changes a tryptophan to an arginine.
▶GWAS Catalog Trait Associations (16)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (16)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
reticulocyte amount
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.04
p 4.0e-67
N 408,112
Large GWAS
European
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-42
N 394,642
Large GWAS
European
forced expiratory volume
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 A
OR 14.72
p 5.0e-49
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 A
OR 0.02
p 5.0e-30
N 394,642
Large GWAS
European
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.02
p 1.0e-20
N 373,397
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 A
OR 0.03
p 7.0e-33
N 321,047
Large GWAS
European
Wain LV et al. “Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.” Nature Genetics 49(3):416-425 (2017)
Allele A
OR 0.04
p 2.0e-10
N 48,943
Large GWAS
European
Wain LV et al. “Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.” The Lancet. Respiratory Medicine 3(10):769-81 (2015)
Allele A
OR 0.11
p 3.0e-8
N 29,303
Major Consortium StudyLarge GWAS
European
reticulocyte count
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 7.0e-45
N 408,112
Large GWAS
European
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 0.02
p 3.0e-19
N 394,642
Large GWAS
European
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-18
N 170,761
Large 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 8.0e-30
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 1.07
p 3.0e-12
N 257,811
Large GWAS
European, East Asian, African American or Afro-Caribbean, Hispanic or Latin American, NR
Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)
Allele A
OR 1.08
p 4.0e-13
N 251,091
Large GWAS
multi-ancestry
Kim W et al. “Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.” American Journal of Epidemiology 190(5):875-885 (2021)
Allele A
OR 1.08
p 3.0e-9
N 200,766
Large GWAS
European
FEV/FVC ratio
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 0.02
p 7.0e-21
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 G
OR 0.02
p 3.0e-16
N 321,047
Large GWAS
European
Wain LV et al. “Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.” Nature Genetics 49(3):416-425 (2017)
Allele G
OR 0.04
p 5.0e-8
N 48,943
Large GWAS
European
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 A
OR 0.02
p 5.0e-20
N 321,047
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 3.0e-17
N 394,642
Large GWAS
European
cerebral cortex area attribute
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele A
OR —
p 1.0e-17
N 35,657
Large GWAS
European
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 7.85
p 4.0e-15
N 33,748
Large GWAS
European
intraocular pressure measurement
Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele A
OR 0.11
p 2.0e-17
N 115,486
Large GWAS
European
systolic blood pressure
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.01
p 2.0e-15
N 928,679
Large GWAS
multi-ancestry
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.26
p 1.0e-12
N 526,001
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 A
OR 0.01
p 1.0e-9
N 485,664
Large GWAS
multi-ancestry
Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele A
OR 0.21
p 1.0e-9
N 459,777
Large GWAS
multi-ancestry
erythrocyte attribute
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele G
OR 0.05
p 2.0e-13
N 37,931
Large GWAS
European
▶ClinVar annotation
About TNS1
The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
View all TNS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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