Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555166368
rs1555166368
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs551236750
rs551236750
CDKN1B ; GPR19
T 0.700 CausalMutation CLINVAR

dbSNP: rs6256
rs6256
PTH
A 0.700 CausalMutation CLINVAR

dbSNP: rs774454456
rs774454456
CDKN1B ; GPR19
C 0.700 CausalMutation CLINVAR

dbSNP: rs869312167
rs869312167
MEN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs77724903
rs77724903
RET
0.020 GeneticVariation BEFREE Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. 16356097

2005
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: rs202199891
rs202199891
APC
0.010 GeneticVariation BEFREE A genetic variant in the APC gene co-segregating with PHPT (p.Val530Ala) was detected in a family whose affected relatives had additional tumors, including colonic polyposis. 31486992

2020
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: 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: 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: rs1801725
rs1801725
CASR
0.060 GeneticVariation BEFREE Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism. 11580999

2001
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: 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: rs146646971
rs146646971
RET
0.010 GeneticVariation BEFREE None of the K666N DNA variant carriers had evidence of primary hyperparathyroidism or pheochromocytoma. 27673361

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: 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: 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: 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: 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: 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: rs1555165488
rs1555165488
MEN1
GAAGCTCC 0.700 GeneticVariation CLINVAR Pancreatic hemi-agenesis in MEN1: A clinical report. 29174091

2018
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