RS17580 SERPINA1
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What This Variant Does
"rs17580, also known as the S or PiS allele, is a SNP in the SERPINA1 gene. Levels of alpha-1 antitry...
Associated Conditions
PI S
Alpha-1-antitrypsin deficiency
Chronic obstructive pulmonary disease
Cystic fibrosis
Inborn genetic diseases
Susceptibility to severe coronavirus disease (COVID-19)
SERPINA1-related disorder
Sarcoma
Gastric cancer
Cholangiocarcinoma
Hepatocellular carcinoma
Colorectal cancer
Malignant tumor of esophagus
Autosomal recessive SERPINA1-related disorders
Uterine corpus endometrial carcinoma
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Neutrophil cytosol factor 2 levels | A | OR: 1.35 | 7E-482 | PubMed |
| Syntaxin-2 levels | A | OR: 1.25 | 1E-409 | PubMed |
| Serum levels of protein NCF2 | A | OR: 1.53 | 3E-234 | PubMed |
| Urea transporter 2 levels | A | OR: 0.97 | 4E-229 | PubMed |
| Interleukin-15 levels | A | OR: 0.9 | 3E-195 | PubMed |
| Alpha-1-antitrypsin levels | A | OR: 0.88 | 4E-194 | PubMed |
| Ubiquitin carboxyl-terminal hydrolase isozyme L1 levels | A | OR: 0.73 | 1E-140 | PubMed |
| Serine/threonine-protein kinase MRCK alpha levels | A | OR: 0.74 | 2E-127 | PubMed |
| Serum levels of protein UCHL1 | A | OR: 1.18 | 9E-127 | PubMed |
| Keratin, type I cytoskeletal 16 levels | A | OR: 0.75 | 3E-126 | PubMed |
| SERPINA1 protein levels | A | OR: 0.34 | 5E-126 | PubMed |
| Synaptosomal-associated protein 25 levels | A | OR: 0.71 | 1E-114 | PubMed |
| Melanoma-associated antigen 3 levels | A | OR: 0.65 | 7E-97 | PubMed |
| Serum levels of protein STX2 | A | OR: 1.01 | 5E-96 | PubMed |
| Serum levels of protein SLC14A2 | A | OR: 1.03 | 5E-94 | PubMed |
| Urea transporter 2 levels (SLC14A2.12818.159.3) | A | OR: 1.08 | 1E-89 | PubMed |
| ITGA2 protein levels | A | OR: 0.21 | 3E-87 | PubMed |
| NOTCH2 protein levels | A | OR: 0.25 | 1E-86 | PubMed |
| Inositol oxygenase levels | A | OR: 0.61 | 2E-84 | PubMed |
| Synaptosomal-associated protein 25 levels (SNAP25.13105.7.3) | A | OR: 1.01 | 1E-76 | PubMed |
Other Variants in SERPINA1