Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.710 | CausalMutation | CLINVAR | Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. | 27637299 | 2016 |
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A | 0.710 | CausalMutation | CLINVAR | R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. | 22405933 | 2012 |
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A | 0.710 | CausalMutation | CLINVAR | TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. | 22876533 | 2012 |
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|
A | 0.710 | CausalMutation | CLINVAR | Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. | 21707688 | 2011 |
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|
A | 0.710 | CausalMutation | CLINVAR | Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. | 21677043 | 2011 |
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|
A | 0.710 | CausalMutation | CLINVAR | The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. | 21714469 | 2010 |
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|
A | 0.710 | CausalMutation | CLINVAR | Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. | 19506388 | 2009 |
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|
0.710 | 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 |
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|
A | 0.710 | CausalMutation | CLINVAR | Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. | 15693879 | 2005 |
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A | 0.710 | CausalMutation | CLINVAR | Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. | 11442002 | 2001 |