Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene. 19268523

2009
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. 16804041

2006
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal ligand-binding domain. 12511610

2003
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Two resistance to thyroid hormone mutants with impaired hormone binding. 12554782

2003
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online. 10660344

1998
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations. 8889584

1996
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT 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: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. 8175986

1994
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT 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: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. 8514853

1993
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity. 1314846

1992
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance. 1324420

1992
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. 1563081

1992
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone. 1619012

1992
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. 1587388

1992
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT "Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two ""hot spot"" regions of the ligand binding domain." 1661299

1991
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance. 1846005

1991
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. 2153155

1990
dbSNP: rs28999969
rs28999969
THRB
0.800 GeneticVariation UNIPROT Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. 2510172

1989
dbSNP: rs28999969
rs28999969
THRB
T 0.800 CausalMutation CLINVAR