TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Autoimmune thyroid disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751054919
rs751054919
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C0178468
Disease:
Autoimmune thyroid disease 		0.010 GeneticVariation BEFREE Three of the TSH receptor mutants, deletions of residues 295-306 and 387-395 and the point mutation of cysteine 301 to serine, are shown to be particularly useful in these assays and may be useful to clarify the pathogenetic role and clinical significance of stimulating TSHRAbs in patients with autoimmune thyroid disease who also have blocking TSHRAbs. 8100829 1993