Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555165488
rs1555165488
GAAGCTCC 0.700 GeneticVariation CLINVAR Pancreatic hemi-agenesis in MEN1: A clinical report. 29174091

2018

dbSNP: rs1555166368
rs1555166368
T 0.700 CausalMutation CLINVAR

dbSNP: rs551236750
rs551236750
T 0.700 CausalMutation CLINVAR

dbSNP: rs6256
rs6256
PTH
A 0.700 CausalMutation CLINVAR

dbSNP: rs774454456
rs774454456
C 0.700 CausalMutation CLINVAR

dbSNP: rs869312167
rs869312167
G 0.700 CausalMutation CLINVAR

dbSNP: rs1042636
rs1042636
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

dbSNP: rs1042636
rs1042636
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

dbSNP: rs1042636
rs1042636
0.080 GeneticVariation BEFREE The R990G polymorphism is most frequently present in the Chinese population and among patients with PHPT. 23946278

2013

dbSNP: rs1042636
rs1042636
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

dbSNP: rs1042636
rs1042636
0.080 GeneticVariation BEFREE R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism. 17062884

2006

dbSNP: rs1042636
rs1042636
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

dbSNP: rs1042636
rs1042636
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

dbSNP: rs1042636
rs1042636
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

dbSNP: rs1801725
rs1801725
0.060 GeneticVariation BEFREE We conducted meta-analyses for calcium-sensing receptor gene (CaSR) rs1801725 polymorphism in patients with primary hyperparathyroidism and vitamin D receptor gene (VDR) rs1544410 polymorphism in patients with end-stage renal disease (ESRD). 29794776

2018

dbSNP: rs1801725
rs1801725
0.060 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

dbSNP: rs1801725
rs1801725
0.060 GeneticVariation BEFREE The purpose of this study was to investigate the distribution of the A986S and R990G polymorphisms of the calcium-sensing receptor (CASR) gene in the Chinese population and whether there is an association between genetic variants and the risk of developing primary hyperparathyroidism (PHPT) and its associated clinical phenotypes. 23946278

2013

dbSNP: rs1801725
rs1801725
0.060 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

dbSNP: rs1801725
rs1801725
0.060 GeneticVariation BEFREE The A986S CaR polymorphism is the most common in Italian PHPT patients and the allotype AS does not appear to play a relevant role in the pathogenesis of PHPT and its severity. 12150336

2003

dbSNP: rs1801725
rs1801725
0.060 GeneticVariation BEFREE Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism. 11580999

2001

dbSNP: rs1801726
rs1801726
0.040 GeneticVariation BEFREE Our meta-analysis results showed that single nucleotide polymorphisms (SNPs) of CASR gene A986S (rs1081725) and R990G (rs1042636), but not Q1011E (rs1801726), may increase the risk of PHPT [A986S (rs1081725): allele model: P = 0.013; dominant model: P = 0.044; R990G (rs1042636): allele model: P = 0.023; dominant model: P = 0.026)]. 26710757

2016

dbSNP: rs756322971
rs756322971
0.040 GeneticVariation BEFREE Our meta-analysis results showed that single nucleotide polymorphisms (SNPs) of CASR gene A986S (rs1081725) and R990G (rs1042636), but not Q1011E (rs1801726), may increase the risk of PHPT [A986S (rs1081725): allele model: P = 0.013; dominant model: P = 0.044; R990G (rs1042636): allele model: P = 0.023; dominant model: P = 0.026)]. 26710757

2016

dbSNP: rs1801726
rs1801726
0.040 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

dbSNP: rs756322971
rs756322971
0.040 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

dbSNP: rs1801726
rs1801726
0.040 GeneticVariation BEFREE To evaluate the frequency of three polymorphisms; A986S, R990G, and Q1011E of CaSR in patients with PHPT and to correlate the genotypes with clinical and biochemical parameters. 17062884

2006