Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042636
rs1042636
CASR
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
CASR
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
CASR
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
CASR
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
CASR
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: rs1042636
rs1042636
CASR
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
CASR
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
CASR
0.080 GeneticVariation BEFREE The R990G polymorphism is most frequently present in the Chinese population and among patients with PHPT. 23946278

2013
dbSNP: rs1081725
rs1081725
IPO5P1
0.010 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: rs111033565
rs111033565
PRSS1
0.010 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731

2008
dbSNP: rs111033566
rs111033566
PRSS1
0.010 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731

2008
dbSNP: rs121909293
rs121909293
CTRC
0.010 GeneticVariation BEFREE However, it only indicates that the CTRC (p.R254W) mutation might also contribute to the panel of mutations ( SPINK1 and CFTR) that have been formerly reported to elevate pancreatitis susceptibility in pHPT. 20625975

2011
dbSNP: rs121913228
rs121913228
CTNNB1
0.010 GeneticVariation BEFREE A protein-stabilizing mutation in exon 3 of beta-catenin (S37A) was detected in three of 20 pHPT tumors (15%). 17047023

2007
dbSNP: rs1223231582
rs1223231582
PRSS1
0.010 GeneticVariation BEFREE Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population). 18076731

2008
dbSNP: rs1451011538
rs1451011538
CRISPLD2
0.010 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731

2008
dbSNP: rs146646971
rs146646971
RET
0.010 GeneticVariation BEFREE None of the K666N DNA variant carriers had evidence of primary hyperparathyroidism or pheochromocytoma. 27673361

2016
dbSNP: rs1485866385
rs1485866385
APC
0.010 GeneticVariation BEFREE A protein-stabilizing mutation in exon 3 of beta-catenin (S37A) was detected in three of 20 pHPT tumors (15%). 17047023

2007
dbSNP: rs1489694587
rs1489694587
DMD
0.010 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: rs1501899
rs1501899
CASR
0.010 GeneticVariation BEFREE Two single-nucleotide polymorphisms (SNPs) at the calcium-sensing receptor (CASR) gene were previously associated with kidney stones in patients with primary hyperparathyroidism (PHPT): rs1501899, likely associated with a decrease in CASR expression, and Arg990Gly, causing a gain of CASR function. 24832896

2015
dbSNP: rs1544410
rs1544410
VDR
0.010 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: rs1555165488
rs1555165488
MEN1
GAAGCTCC 0.700 GeneticVariation CLINVAR Pancreatic hemi-agenesis in MEN1: A clinical report. 29174091

2018
dbSNP: rs1555166368
rs1555166368
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs17107315
rs17107315
SPINK1
0.020 GeneticVariation BEFREE No further SPINK1 p.N34S (n=4) mutations were detected but the probability of either CTRC or SPINK1 mutations in pHPT patients with pancreatitis is high (P<0.05). 20625975

2011
dbSNP: rs17107315
rs17107315
SPINK1
0.020 GeneticVariation BEFREE Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population). 18076731

2008
dbSNP: rs1801725
rs1801725
CASR
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