| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. | 7528344 | 1995 |
||||
|
0.800 | GeneticVariation | UNIPROT | Four families with loss of function mutations of the thyrotropin receptor. | 8954020 | 1996 |
||||
|
A | 0.700 | CausalMutation | CLINVAR | Four families with loss of function mutations of the thyrotropin receptor. | 8954020 | 1996 |
|||
|
0.800 | GeneticVariation | UNIPROT | Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. | 9329388 | 1997 |
||||
|
0.800 | GeneticVariation | UNIPROT | Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. | 9185526 | 1997 |
||||
|
0.800 | GeneticVariation | UNIPROT | Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. | 9100579 | 1997 |
||||
|
A | 0.700 | CausalMutation | CLINVAR | Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. | 9100579 | 1997 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. | 9185526 | 1997 |
|||
|
0.800 | GeneticVariation | UNIPROT | Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. | 10720030 | 2000 |