Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11038357
rs11038357
A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs118039499
rs118039499
A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs12138950
rs12138950
A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs17477923
rs17477923
T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs2046045
rs2046045
T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs2983514
rs2983514
A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs66760320
rs66760320
T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs8077245
rs8077245
T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs925488
rs925488
A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059

2018

dbSNP: rs28937584
rs28937584
0.010 GeneticVariation BEFREE Hyperthyroidism and Papillary Thyroid Carcinoma in Thyrotropin Receptor D633H Mutant Mice. 30132406

2018

dbSNP: rs3789604
rs3789604
0.010 GeneticVariation BEFREE The C allele of rs3789604 (PTPN22) was a significant risk factor for LD-associated hyperthyroidism in GD patients, whereas C allele of GPR174 rs3827440 and G allele of RNASET2 rs9355610 appeared to be a protective factor for this disease. 28568286

2018

dbSNP: rs3827440
rs3827440
0.010 GeneticVariation BEFREE Results from logistic regression indicted that among the GD patients, C carriers of PTPN22 rs3789604 were associated with a higher risk of LD-associated hyperthyroidism, while C carriers of rs3827440 (GPR174) and G carriers of rs9355610 (RNASET2) were associated with a reduced risk of LD-associated hyperthyroidism. 28568286

2018

dbSNP: rs9355610
rs9355610
0.010 GeneticVariation BEFREE The C allele of rs3789604 (PTPN22) was a significant risk factor for LD-associated hyperthyroidism in GD patients, whereas C allele of GPR174 rs3827440 and G allele of RNASET2 rs9355610 appeared to be a protective factor for this disease. 28568286

2018

dbSNP: rs1311839715
rs1311839715
0.010 GeneticVariation BEFREE A novel KCNJ18 mutation, G169R, was first reported to be associated with hypokalemic periodic paralysis without hyperthyroidism. 27178871

2016

dbSNP: rs1991517
rs1991517
0.010 GeneticVariation BEFREE Although no significant difference was found in TSHR D727E polymorphism frequencies between the patients with nodular goiters (26/123 patients, 21.1%) and the controls (12/97 patients, 12.4%) (P = 0.107), the frequency of the TSHR D727E polymorphism in the hyperthyroid+subclinical hyperthyroid patient groups (23%) was significantly higher than in the control subjects (12.4%) (P = 0.024). 27525921

2016

dbSNP: rs4416670
rs4416670
0.010 GeneticVariation BEFREE We also showed that the T allele of rs4416670 polymorphism was associated with increased risk of hyperthyroidism in patients treated for six months, independently of their initial diagnosis. 26955881

2016

dbSNP: rs12722039
rs12722039
0.010 GeneticVariation BEFREE Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; PTPN22 C/T) in relation to phenotypes (age, sex, severity (clinical, biochemical, and immunological)) of hyperthyroidism and environmental factors (smoking, stress questionnaires). 22968483

2012

dbSNP: rs17879469
rs17879469
0.010 GeneticVariation BEFREE Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; PTPN22 C/T) in relation to phenotypes (age, sex, severity (clinical, biochemical, and immunological)) of hyperthyroidism and environmental factors (smoking, stress questionnaires). 22968483

2012

dbSNP: rs231775
rs231775
0.010 GeneticVariation BEFREE Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; PTPN22 C/T) in relation to phenotypes (age, sex, severity (clinical, biochemical, and immunological)) of hyperthyroidism and environmental factors (smoking, stress questionnaires). 22968483

2012

dbSNP: rs1045642
rs1045642
0.010 GeneticVariation BEFREE According to the results obtained no statistically significant difference was found in Pgp C3435T polymorphism between hypo- and hyperthyroidism patients. 17891478

2008

dbSNP: rs121908873
rs121908873
0.010 GeneticVariation BEFREE This is consistent with the finding that only the index patient with the additional somatic mutation S281N was hyperthyroid. 18466076

2008

dbSNP: rs1800562
rs1800562
0.010 GeneticVariation BEFREE Prevalences of hypothyroidism and hyperthyroidism are similar in C282Y homozygotes without previous hemochromatosis diagnoses and controls. 18651828

2008

dbSNP: rs121908879
rs121908879
0.010 GeneticVariation BEFREE A naturally occurring mutation in the ectodomain of the TSH receptor (TSHr), K183R, has been described recently in a familial case of gestational hyperthyroidism. 11923469

2002

dbSNP: rs1482760341
rs1482760341
0.010 GeneticVariation BEFREE We described a large family with a relatively not severe phenotype of ALS (due to a leu144phe SOD1 mutation) that was compromised in one patient by a concomitant hyperthyroidism. 11676987

2001

dbSNP: rs571893270
rs571893270
0.010 GeneticVariation BEFREE Herein, we report the molecular characterization of a case of severe congenital hyperthyroidism with a history of hyperthyroidism in the paternal aunt and the paternal grandmother, who were both found to be heterozygous for a mutation (R528H) located in exon 10 of the TSHR gene. 9589634

1998