TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Graves Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1991517
rs1991517
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C0018213
Disease:
Graves Disease 		0.040 GeneticVariation BEFREE Both the P52T and D727E mutations were not associated with GD. 12930595 2003
dbSNP: rs1991517
rs1991517
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C0018213
Disease:
Graves Disease 		0.040 GeneticVariation BEFREE A meta-analysis combining our data and those of 2 previous studies showed a very weak association between the D727E SNP and GD (p = 0.03, relative risk = 1.6). 12593721 2002
dbSNP: rs1991517
rs1991517
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C0018213
Disease:
Graves Disease 		0.040 GeneticVariation BEFREE The D727E variant of the TSHR gene is associated with Graves' disease in a Russian population. 11887032 2002
dbSNP: rs1991517
rs1991517
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C0018213
Disease:
Graves Disease 		0.040 GeneticVariation BEFREE This technique was also used to examine peripheral blood genomic DNA from 52 normal individuals and 49 patients with Graves' disease; 33.3% of TMNG (P = 0.019 vs. normal subjects), 16.3% of Graves' disease patients (P = 0.10 vs. normal subjects), and 9.6% of normal individuals were heterozygous for the D727E polymorphism. 10487707 1999