Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918699
rs121918699
THRB
0.710 GeneticVariation BEFREE She was determined to harbor a missense mutation of M310T in exon 9 of the TR beta gene, and diagnosed with generalized RTH. 20808683

2010
dbSNP: rs121918694
rs121918694
THRB
0.710 GeneticVariation BEFREE X-ray crystallography analyses revealed that these two RTH mutants modulate the position of this flexible region by either altering the movement of helix 1 (A234T) or disrupting a salt bridge (R243Q). 12511610

2003
dbSNP: rs121918694
rs121918694
THRB
T 0.710 CausalMutation CLINVAR

dbSNP: rs121918699
rs121918699
THRB
G 0.710 CausalMutation CLINVAR

dbSNP: rs121918700
rs121918700
THRB
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918701
rs121918701
THRB
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918702
rs121918702
THRB
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553609185
rs1553609185
THRB
C 0.700 CausalMutation CLINVAR

dbSNP: rs28999970
rs28999970
THRB
T 0.700 CausalMutation CLINVAR

dbSNP: rs28933408
rs28933408
THRB
0.060 GeneticVariation BEFREE Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. 30672388

2019
dbSNP: rs28933408
rs28933408
THRB
0.060 GeneticVariation BEFREE A 44-year-old Japanese woman with RTH, which was confirmed by the presence of a P453A mutation in the thyroid hormone receptor β (TRβ) gene, showed a slight elevation of the basal levels of thyroid hormones, which indicated that her pituitary RTH was mild. 23240983

2013
dbSNP: rs28933408
rs28933408
THRB
0.060 GeneticVariation BEFREE A mutation in one allele of the thyroid hormone receptor beta gene (P453A) was identified, providing a genetic confirmation for the diagnosis of RTH. 18561095

2009
dbSNP: rs28933408
rs28933408
THRB
0.060 GeneticVariation BEFREE Second, we found a germline mutation (Pro453Thr) of the thyroid hormone receptor beta (THRB) which is associated with resistance to thyroid hormone. 19725132

2009
dbSNP: rs28933408
rs28933408
THRB
0.060 GeneticVariation BEFREE Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T). 16099238

2005
dbSNP: rs28933408
rs28933408
THRB
0.060 GeneticVariation BEFREE Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. 7833659

1994
dbSNP: rs1553609210
rs1553609210
THRB
0.020 GeneticVariation BEFREE Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene. 15815068

2005
dbSNP: rs121918706
rs121918706
THRB
0.020 GeneticVariation BEFREE X-ray crystallography analyses revealed that these two RTH mutants modulate the position of this flexible region by either altering the movement of helix 1 (A234T) or disrupting a salt bridge (R243Q). 12511610

2003
dbSNP: rs1553609210
rs1553609210
THRB
0.020 GeneticVariation BEFREE Toxic multinodular goitre in a patient with generalized resistance to thyroid hormone who harbours the R429Q mutation in the thyroid hormone receptor beta gene. 11167935

2001
dbSNP: rs121918706
rs121918706
THRB
0.020 GeneticVariation BEFREE We recently identified two families with RTH having mutations in amino acid 243 (R243Q and R243W) in whom the mechanism of RTH appears to be distinct from that of other natural TRbeta mutations. 9141558

1997
dbSNP: rs121918707
rs121918707
THRB
0.020 GeneticVariation BEFREE We recently identified two families with RTH having mutations in amino acid 243 (R243Q and R243W) in whom the mechanism of RTH appears to be distinct from that of other natural TRbeta mutations. 9141558

1997
dbSNP: rs201943415
rs201943415
TXNRD2
0.020 GeneticVariation BEFREE Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). 9086567

1997
dbSNP: rs121918707
rs121918707
THRB
0.020 GeneticVariation BEFREE New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone. 8664910

1996
dbSNP: rs201943415
rs201943415
TXNRD2
0.020 GeneticVariation BEFREE A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. 8175986

1994
dbSNP: rs121918686
rs121918686
THRB
0.010 GeneticVariation BEFREE The genetic test revealed a mutation in heterozygosity in THRB gene (G344R) confirming RTH-beta. 31326901

2019
dbSNP: rs758677446
rs758677446
THRB ; LOC101927854
0.010 GeneticVariation BEFREE Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. 30672388

2019