| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | BEFREE | Our results indicate that SNPs of CASR gene A986S (rs1081725) and R990G (rs1042636) may increase the risk of PHPT, and the polymorphisms can potentially be used as important biological markers for early diagnosis of PHPT. | 26710757 | 2016 |
||||
|
0.080 | GeneticVariation | BEFREE | We conclude that the simultaneous presence of the minor allele at rs1501899 and Arg990Gly may amplify the kidney stone risk in PHPT patients, despite their apparently opposite effects on CASR function in the kidney. | 24832896 | 2015 |
||||
|
0.080 | GeneticVariation | BEFREE | The R990G polymorphism is most frequently present in the Chinese population and among patients with PHPT. | 23946278 | 2013 |
||||
|
0.080 | GeneticVariation | BEFREE | Pancreatitis in primary hyperparathyroidism is not associated with mutations in the CASR gene, while it remains to be determined why the polymorphisms A986S, R990G and Q1011E were less often present in that subgroup than in the normal population. | 17853337 | 2007 |
||||
|
0.080 | GeneticVariation | BEFREE | R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism. | 17062884 | 2006 |
||||
|
0.080 | GeneticVariation | BEFREE | The aim of the present study was to investigate the frequency of this and other 2 known CaR polymorphisms (R990G and Q1011 E) in patients with PHPT and their effect on its phenotype. | 12150336 | 2003 |
||||
|
0.080 | GeneticVariation | BEFREE | The intention of this study was therefore to investigate the frequency of the described calcium-sensing receptor variants A986S, R990G and Q1011E in patients with primary hyperparathyroidism to test the hypothesis as to whether these variants represent risk factors for the development of primary hyperparathyroidism. | 11580999 | 2001 |
||||
|
0.080 | GeneticVariation | BEFREE | The present study is the first to show that CaR polymorphisms of G990R and intron 5 were closely associated with the magnitude of PTH secretion and/or PTH degradation as well as the clinical severity in pHPT patients. | 11589681 | 2001 |