rs121918690, THRB

N. diseases: 3
Disease: Thyroid Hormone Resistance Syndrome ×
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 We present 1 pedigree of THRS with heterozygous A317T mutation in THRβ gene in the proband and his mother, which is the first reported mutation in Chinese and provides a comprehensive review of available literature. 27537566 2016