Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518903
rs1057518903
MEN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518933
rs1057518933
CASR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555166368
rs1555166368
MEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs786202497
rs786202497
CHEK2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913228
rs121913228
CTNNB1
0.030 GeneticVariation BEFREE The S37A mutation was reported to occur in 7.3 % in a single study of parathyroid adenomas, while in other studies no stabilizing mutations of β-catenin exon 3 were identified. 22576020

2012
dbSNP: rs121913228
rs121913228
CTNNB1
0.030 GeneticVariation BEFREE The mutation S37A (TCT > GCT) was detected by direct DNA sequencing of PCR fragments in 6 out of 104 sporadic parathyroid adenomas (5.8%). 18541010

2008
dbSNP: rs121913228
rs121913228
CTNNB1
0.030 GeneticVariation BEFREE The absence of stabilizing mutations of beta-catenin, including the previously reported S37A, encoded in CTNNB1 exon 3 among 97 tumors suggests that such mutations contribute rarely if at all to the development of sporadic parathyroid adenomas. 17284619

2007
dbSNP: rs121434265
rs121434265
CDC73 ; LOC101929160
0.010 GeneticVariation BEFREE The Y54X mutation in the CDC73 gene was previously identified in parathyroid carcinomas, which proved that parathyroid adenomas and carcinomas might possess similar molecular signatures. 29982334

2018
dbSNP: rs374453691
rs374453691
PCA3 ; PRUNE2
0.010 GeneticVariation BEFREE PRUNE2 showed recurrent mutations in 18% (4/22) of PCs with additional screening in 40 PAs revealing only one rare missense polymorphism (Asp1677Asn). 25387265

2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476

2014
dbSNP: rs759506294
rs759506294
POMC
0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476

2014
dbSNP: rs768299768
rs768299768
POMC
0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476

2014
dbSNP: rs121913400
rs121913400
CTNNB1
0.010 GeneticVariation BEFREE The mutation S33C (TCT>TGT) was detected by direct-DNA sequencing of PCR fragments in 1 out of 180 sporadic parathyroid adenomas (0.68 %). 22576020

2012
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
0.010 GeneticVariation BEFREE We have discovered somatic point mutations in two parathyroid adenomas (A340T and A541T), in one insulinoma (T429K), and in the malignant VIPoma (W198X). 9564891

1998