Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516029
rs1057516029
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918690
rs121918690
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

dbSNP: rs1405414838
rs1405414838
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

dbSNP: rs1553610984
rs1553610984
C 0.700 GeneticVariation CLINVAR

dbSNP: rs189261858
rs189261858
0.010 GeneticVariation BEFREE These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance</span> in Japan. 16756469

2006