Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling. 25978107

2015
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism. 15531543

2004
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. 14725684

2004
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. 12050212

2002
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. 11442002

2001
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
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
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. 11095460

2000
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. 9329388

1997
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. 9185526

1997
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. 9100579

1997
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Four families with loss of function mutations of the thyrotropin receptor. 8954020

1996
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
0.800 GeneticVariation UNIPROT Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. 7528344

1995
dbSNP: rs121908863
rs121908863
TSHR ; LOC101928462
G 0.800 CausalMutation CLINVAR