Gene: CEP128 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12050151
rs12050151
CEP128
0.700 GeneticVariation GWASDB A genome-wide association study identifies two new risk loci for Graves' disease. 21841780

2011
dbSNP: rs2217177
rs2217177
CEP128
0.700 GeneticVariation GWASDB A genome-wide association study identifies two new risk loci for Graves' disease. 21841780

2011
dbSNP: rs8022600
rs8022600
TSHR ; CEP128
0.700 GeneticVariation GWASDB A genome-wide association study identifies two new risk loci for Graves' disease. 21841780

2011
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
0.050 GeneticVariation BEFREE Both the P52T and D727E mutations were not associated with GD. 12930595

2003
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
0.050 GeneticVariation BEFREE Population-based case-control studies have largely shown no association of GD with the D36H (Asp to His) and P52T (Pro to Thr) single nucleotide polymorphisms (SNPs) in the N-terminal region of the extracellular domain of the TSHR gene in Caucasian populations. 12593721

2002
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
0.050 GeneticVariation BEFREE We studied polymorphism of Ala17Thr CTLA4, H60R LMP2, Pro52Thr TSHR, and IL1RN-VNTR in healthy controls (n = 93) and patients with Graves disease (n = 78) using PCR. 10924276

2000
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
0.050 GeneticVariation BEFREE Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves' disease. 10651846

2000
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
0.050 GeneticVariation BEFREE Patients with Graves' disease (n = 160) and healthy controls (blood donors; n = 140) were screened using single-stranded conformational polymorphism (SSCP) in combination with restriction enzyme digestion for the two previously known mutations in this part of the receptor, viz.D36H and P52T TSHR-variants. 10037069

1999
dbSNP: rs327463
rs327463
CEP128
0.010 GeneticVariation BEFREE CEP128 rs327463 was substantially related to GD under the allele model (OR = 1.31, 95%CI 1.08-1.59, P = 0.006) and the dominant model (OR = 1.37, 95%CI 1.09-1.72, P = 0.008), and it was related to HT under the recessive model (OR = 1.85, P = 0.031) and the homozygous model (OR = 1.91, P = 0.025). 30393005

2019
dbSNP: rs2239610
rs2239610
TSHR ; CEP128
0.010 GeneticVariation BEFREE In addition, the TSHR rs2239610 SNP is related to the severity of Graves' disease. 19438904

2010
dbSNP: rs61747482
rs61747482
TSHR ; CEP128
0.010 GeneticVariation BEFREE Population-based case-control studies have largely shown no association of GD with the D36H (Asp to His) and P52T (Pro to Thr) single nucleotide polymorphisms (SNPs) in the N-terminal region of the extracellular domain of the TSHR gene in Caucasian populations. 12593721

2002