RS76992529 TTR
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What This Variant Does
"rs76992529, also known as V122I, Val122Ile, V142I or Val142Ile, is a mutation in the transthyretin T...
Associated Conditions
Amyloidosis
hereditary systemic 1
Cardiomyopathy
Cardiovascular phenotype
ATTRV122I amyloidosis
Charcot-Marie-Tooth disease
Carpal tunnel syndrome 1
Hyperthyroxinemia
dystransthyretinemic
Tip-toe gait
TTR-related disorder
Amyloidosis
hereditary systemic 1
Cardiomyopathy
Cardiovascular phenotype
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Metabolite peak levels (QI722) | A | OR: 0.76 | 5E-14 | PubMed |
Other Variants in TTR