Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs189261858
rs189261858
A 0.710 CausalMutation CLINVAR Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. 27637299

2016

dbSNP: rs189261858
rs189261858
A 0.710 CausalMutation CLINVAR R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. 22405933

2012

dbSNP: rs189261858
rs189261858
A 0.710 CausalMutation CLINVAR TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. 22876533

2012

dbSNP: rs189261858
rs189261858
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

dbSNP: rs189261858
rs189261858
A 0.710 CausalMutation CLINVAR Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. 21677043

2011

dbSNP: rs189261858
rs189261858
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

dbSNP: rs189261858
rs189261858
A 0.710 CausalMutation CLINVAR Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene. 19506388

2009

dbSNP: rs189261858
rs189261858
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

dbSNP: rs189261858
rs189261858
A 0.710 CausalMutation CLINVAR Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene. 15693879

2005

dbSNP: rs189261858
rs189261858
A 0.710 CausalMutation CLINVAR Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. 11442002

2001