THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853162
rs137853162
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853163
rs137853163
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		C 0.700 CausalMutation CLINVAR
dbSNP: rs199530759
rs199530759
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876657394
rs876657394
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876657395
rs876657395
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs876657396
rs876657396
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		G 0.700 CausalMutation CLINVAR
dbSNP: rs939348
rs939348
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE We observed that subjects bearing the rs939348 TT genotype had a tendency to have a higher risk of developing AD (adjusted OR [95%CI]=1.71 [0.99-2.95] p=0.06). 19427062 2011
dbSNP: rs939348
rs939348
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE For the first time, our study showed associations between the THRA rs939348 polymorphism and systolic BP and the risk of hypertension but not with CHD, although we admit that the statistical power available to study any relationship with CHD was very limited. 21654857 2011
dbSNP: rs939348
rs939348
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE For the first time, our study showed associations between the THRA rs939348 polymorphism and systolic BP and the risk of hypertension but not with CHD, although we admit that the statistical power available to study any relationship with CHD was very limited. 21654857 2011
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C3280817
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 		0.700 GeneticVariation UNIPROT A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Clinical phenotype and mutant TRα1. 22494134 2012
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment. 23633213 2013
dbSNP: rs1555545033
rs1555545033
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α. 23940126 2013
dbSNP: rs746765465
rs746765465
Entrez Id: 7067
Gene Symbol: THRA
THRA
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α. 23940126 2013