rs34093919

This variant is located in the LTBP4 gene.

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GWAS Catalog Trait Associations (10)

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

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 A
OR 15.04
p 4.0e-51
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 0.12
p 1.0e-44
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 A
OR 0.15
p 2.0e-47
N 321,047
Large GWAS
European

body height

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 0.05
p 2.0e-24
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 0.05
p 2.0e-18
N 405,540
Large GWAS
European

aortic measurement

Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele G
OR 0.20
p 4.0e-14
N 40,028
Large GWAS
European, NR

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele A
OR 0.06
p 3.0e-13
N 450,243
Major Consortium StudyLarge GWAS
European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.56
p 3.0e-12
N 1,028,980
Large GWAS
multi-ancestry

carotid artery thickness

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.12
p 2.0e-11
N 568,836
Large GWAS
European

aorta size trait

Basty N et al. “Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture.” Communications Medicine 6(1):70 (2026)
Allele A
OR 0.18
p 3.0e-8
N 35,492
Large GWAS
European

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.62
p 3.0e-8
N 1,028,980
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
8 submitters3 publications

not specified; not provided; Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies; Clear cell carcinoma of kidney; Colon adenocarcinoma; Thyroid cancer, nonmedullary, 1; Sarcoma; Gastric cancer; Cholangiocarcinoma; Malignant tumor of esophagus; Ovarian serous cystadenocarcinoma; Thymoma; Lung cancer; Cervical cancer; Uterine corpus endometrial carcinoma; Uveal melanoma; Melanoma; Acute myeloid leukemia

View on ClinVar →

About LTBP4

The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

View all LTBP4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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