TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Thyroid Hormone Resistance Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs189261858
rs189261858
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C2940786
Disease:
Thyroid Hormone Resistance Syndrome 		0.010 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