RS1048099 ABCC8
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Associated Conditions
Hyperinsulinemic hypoglycemia
familial
1
Permanent neonatal diabetes mellitus
Diabetes mellitus
transient neonatal
2
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
permanent neonatal 3
Hyperinsulinemia
Hyperinsulinemic hypoglycemia
familial
1
Permanent neonatal diabetes mellitus
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| NCR3LG1 protein levels | G | β: 0.056 | 2E-32 | PubMed |
Population Frequencies
gnomAD ALL
51.3%
1kG AFR
37.3%
1kG ALL
56.1%
1kG AMR
54.3%
1kG EAS
36.1%
1kG EUR
49.7%
1kG SAS
52.4%
Other Variants in ABCC8