TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Thyrotoxicosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1204330294
rs1204330294
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C0040156
Disease:
Thyrotoxicosis 		0.010 GeneticVariation BEFREE A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis. 18466076 2008