Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs3134070
rs3134070
TNFRSF11B ; COLEC10
0.010 GeneticVariation BEFREE Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels. 22185226

2011
dbSNP: rs3102735
rs3102735
TNFRSF11B ; COLEC10
0.010 GeneticVariation BEFREE Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels. 22185226

2011
dbSNP: rs61734659
rs61734659
PRSS2
0.010 GeneticVariation BEFREE PRSS2 (p.G191R) mutation was present in 1 patient with pancreatitis (3.2%) and in 6 pHPT controls (6%) (P=1). 20625975

2011
dbSNP: rs748405415
rs748405415
PRSS2
0.010 GeneticVariation BEFREE PRSS2 (p.G191R) mutation was present in 1 patient with pancreatitis (3.2%) and in 6 pHPT controls (6%) (P=1). 20625975

2011
dbSNP: rs79658334
rs79658334
RET
0.010 GeneticVariation BEFREE PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos. 16865647

2006
dbSNP: rs1801726
rs1801726
CASR
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
CASR
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: 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: rs1801725
rs1801725
CASR
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: rs1555165488
rs1555165488
MEN1
GAAGCTCC 0.700 GeneticVariation CLINVAR Pancreatic hemi-agenesis in MEN1: A clinical report. 29174091

2018
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: 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: rs1801725
rs1801725
CASR
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: rs756322971
rs756322971
CASR
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
CASR
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: rs74799832
rs74799832
RET
0.010 GeneticVariation BEFREE One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype. 16865647

2006
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: 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: 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: rs1801725
rs1801725
CASR
0.060 GeneticVariation BEFREE Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism. 11580999

2001
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: 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: rs777418530
rs777418530
CRISPLD2
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: 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