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

2001
dbSNP: rs1801726
rs1801726
CASR
0.040 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: rs756322971
rs756322971
CASR
0.040 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: rs1801725
rs1801725
CASR
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: 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: rs77724903
rs77724903
RET
0.020 GeneticVariation BEFREE Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. 16356097

2005
dbSNP: rs77724903
rs77724903
RET
0.020 GeneticVariation BEFREE The key to diagnosis was recurrent HPT in a young male carrying RET mutation Y791F, a mutation not likely to give rise to recurrent HPT. 15870131

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: rs1801726
rs1801726
CASR
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
dbSNP: rs756322971
rs756322971
CASR
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
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: 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: 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: 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: 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