rs1405414838, RGR;LRIT1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid Hormone Resistance Syndrome
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
0.010 GeneticVariation BEFREE Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor beta gene: transcriptional properties of the mutant and the role of retinoid X receptor. 8981016 1996
Generalized Thyroid Hormone Resistance
0.010 GeneticVariation BEFREE Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor beta gene: transcriptional properties of the mutant and the role of retinoid X receptor. 8981016 1996