rs200383755

This is a variant in the GATA5 gene that changes a serine to an tryptophan.

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GWAS Catalog Trait Associations (6)

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

forced expiratory volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.10

p 9.0e-16

N 394,642

Large GWAS

European

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 C

OR 7.13

p 1.0e-12

N 588,452

Large GWAS

multi-ancestry

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 G

OR 0.11

p 6.0e-14

N 325,027

Large GWAS

European

diastolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele C

OR 0.10

p 1.0e-13

N 670,472

Meta-analysisLarge GWAS

European

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele C

OR 0.09

p 3.0e-12

N 670,472

Meta-analysisLarge GWAS

European

lower urinary tract symptom, benign prostatic hyperplasia

Gudmundsson J et al. “Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.” Nature Communications 9(1):4568 (2018)

Allele G

OR 1.61

p 7.0e-12

N 301,162

Large GWAS

European

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)

Allele C

OR —

β 0.086

p 2.0e-9

N 406,504

Large GWAS

European

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ClinVar annotation

Uncertain Significance★★★☆

7 submitters8 publications

Congenital heart defects, multiple types, 5; GATA5-related disorder

View on ClinVar →

About GATA5

The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]

rs200383755

GWAS Catalog Trait Associations (6)

forced expiratory volume

chronic obstructive pulmonary disease

diastolic blood pressure

systolic blood pressure

lower urinary tract symptom, benign prostatic hyperplasia

glomerular filtration rate

ClinVar annotation

About GATA5

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