RS28929474 SERPINA1
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What This Variant Does
"rs28929474, also known as Glu342Lys as well as E366K (and Glu366Lys), is a SNP in the serpin peptida...
Associated Conditions
PI Z
PI Z(AUGSBURG)
PI Z(TUN)
Alpha-1-antitrypsin deficiency
FRAXE
Inborn genetic diseases
Chronic obstructive pulmonary disease
See cases
Susceptibility to severe coronavirus disease (COVID-19)
Neurodevelopmental disorder
SERPINA1-related disorder
Alpha-1-antitrypsin deficiency
PI Z
PI Z(AUGSBURG)
PI Z(TUN)
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| BSG/CKAP4 protein level ratio | — | OR: 1.56 | 8E-1010 | PubMed |
| CKAP4/PGF protein level ratio | — | OR: 1.47 | 2E-983 | PubMed |
| IFNGR1/LTBR protein level ratio | — | OR: 1.22 | 4E-580 | PubMed |
| CSF1/LTBR protein level ratio | — | OR: 1.18 | 5E-550 | PubMed |
| COLEC12/LTBR protein level ratio | — | OR: 1.1 | 6E-512 | PubMed |
| FSTL3/LTBR protein level ratio | — | OR: 1.09 | 4E-490 | PubMed |
| LTBR/TNFRSF14 protein level ratio | — | OR: 1.08 | 1E-445 | PubMed |
| Alpha-1-antitrypsin levels | T | OR: 1.9 | 9E-444 | PubMed |
| CD58/LTBR protein level ratio | — | OR: 0.98 | 1E-385 | PubMed |
| 39S ribosomal protein L33, mitochondrial levels | T | OR: 1.73 | 3E-333 | PubMed |
| Glypican-6 levels | T | OR: 1.66 | 7E-319 | PubMed |
| Albumin levels | T | OR: 0.32 | 3E-279 | PubMed |
| Neutrophil cytosol factor 2 levels | T | OR: 1.55 | 2E-259 | PubMed |
| Sex hormone-binding globulin levels adjusted for BMI | T | OR: 0.13 | 1E-252 | PubMed |
| Alanine transaminase (ALT, minimum, inv-norm transformed) | C | OR: 0.35 | 8E-250 | PubMed |
| ASGR2 protein levels | T | OR: 0.64 | 3E-246 | PubMed |
| Lysosomal acid phosphatase levels | T | OR: 1.49 | 1E-242 | PubMed |
| Sex hormone-binding globulin levels adjusted for BMI | T | β: 0.096 | 8E-240 | PubMed |
| Aspartate aminotransferase (AST, minimum, inv-norm transformed) | C | OR: 0.38 | 3E-236 | PubMed |
| Sex hormone-binding globulin levels | T | OR: 0.14 | 1E-232 | PubMed |
Other Variants in SERPINA1