RS5030737 MBL2
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What This Variant Does
"[OMIM:LECTIN, MANNOSE-BINDING, SOLUBLE, 2
Associated Conditions
Mannose-binding lectin deficiency
Cystic fibrosis
Mannose-binding lectin deficiency
Cystic fibrosis
GWAS Studies (5)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| MBL2 protein levels | A | OR: 0.34 | 6E-256 | PubMed |
| Mannose-binding protein C levels | A | OR: 0.39 | 6E-46 | PubMed |
| Tumor necrosis factor receptor type 1-associated DEATH domain protein protein levels (SomaScan ID:20442-12) | A | OR: 1.09 | 9E-13 | PubMed |
| Serum levels of protein MBL2 | A | OR: 0.3 | 2E-12 | PubMed |
| MBL2 protein levels | — | OR: 0.36 | 4E-8 | PubMed |
Population Frequencies
gnomAD ALL
6.6%
1kG AFR
99.8%
1kG ALL
97.3%
1kG AMR
96.7%
1kG EAS
99.9%
1kG EUR
94%
1kG SAS
94.9%
Other Variants in MBL2