RS13078881 BTD
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What This Variant Does
"rs13078881, also known as c.1330G>
Associated Conditions
Biotinidase deficiency
Inborn genetic diseases
BTD-related disorder
Optic neuropathy
Possible mitochondrial disorder - nuclear genes
Biotinidase deficiency
Inborn genetic diseases
BTD-related disorder
Optic neuropathy
Possible mitochondrial disorder - nuclear genes
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Biotinidase levels | C | OR: 1.68 | 4E-682 | PubMed |
Population Frequencies
gnomAD ALL
3.9%
1kG AFR
0.2%
1kG ALL
1.9%
1kG AMR
1.9%
1kG EAS
100%
1kG EUR
95.7%
1kG SAS
3.5%
Other Variants in BTD