RS149989682 ABCA3
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What This Variant Does
"rs149989682, also known as c.875A>
Associated Conditions
Interstitial lung disease due to ABCA3 deficiency
Diffuse interstitial pulmonary fibrosis
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Interstitial lung disease 2
Hereditary pulmonary alveolar proteinosis
Sarcoma
Ovarian serous cystadenocarcinoma
Malignant tumor of urinary bladder
Cervical cancer
Interstitial lung disease due to ABCA3 deficiency
Diffuse interstitial pulmonary fibrosis
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Interstitial lung disease 2
Hereditary pulmonary alveolar proteinosis
Sarcoma
GWAS Studies (5)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Lung function (FEV1/FVC) | — | OR: 0.12 | 6E-18 | PubMed |
| FEV1 FVC ratio Z score (UKB data field 20258) | A | OR: 0.1 | 1E-15 | PubMed |
| Lung function (FEV1/FVC) | A | OR: 6.38 | 2E-10 | PubMed |
| FEV1/FVC ratio | — | — | 2E-9 | PubMed |
| Chronic obstructive pulmonary disease liability (machine learning-based score) | T | β: 0.077 | 2E-8 | PubMed |
Other Variants in ABCA3