Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854539
rs137854539
GNAS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs75076352
rs75076352
RET
0.060 GeneticVariation BEFREE We found higher penetrance of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism (P<0.001, P=0.007 and P<0.001 respectively) in C634R carriers than in C634Y carriers. 25515555

2015
dbSNP: rs75076352
rs75076352
RET
0.060 GeneticVariation BEFREE Also, a correlation between a specific mutation, C634R, and the development of HPT has been suggested but is still controversial. 9467562

1998
dbSNP: rs75076352
rs75076352
RET
0.060 GeneticVariation BEFREE These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. 9820617

1998
dbSNP: rs75076352
rs75076352
RET
0.060 GeneticVariation BEFREE No statistical significance was found between the incidence of PCC and different genotypes of codon 634 in MEN2A patients, whereas the incidence of HPT was closely associated with C634R and C634Y. 17573899

2007
dbSNP: rs75076352
rs75076352
RET
0.060 GeneticVariation BEFREE Family 2 showed the C634R mutation only in the index case, who presented with cutaneous lichen amyloidosis in addition to MTC, pheochromocytoma and hyperparathyroidism. 11987030

2002
dbSNP: rs75076352
rs75076352
RET
0.060 GeneticVariation BEFREE Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. 16053382

2005
dbSNP: rs75996173
rs75996173
RET
0.050 GeneticVariation BEFREE Family 1 showed a germline mutation (C634Y) in three individuals; a sister and a brother with symptomatic MTC; the former also presented with pheochromocytoma and hyperparathyroidism, and her son was a nine-year-old boy of previously unknown status. 11987030

2002
dbSNP: rs75996173
rs75996173
RET
0.050 GeneticVariation BEFREE We found higher penetrance of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism (P<0.001, P=0.007 and P<0.001 respectively) in C634R carriers than in C634Y carriers. 25515555

2015
dbSNP: rs75996173
rs75996173
RET
0.050 GeneticVariation BEFREE No statistical significance was found between the incidence of PCC and different genotypes of codon 634 in MEN2A patients, whereas the incidence of HPT was closely associated with C634R and C634Y. 17573899

2007
dbSNP: rs75996173
rs75996173
RET
0.050 GeneticVariation BEFREE To further investigate the relationship between specific mutations of codon 634 and the development of HPT, we studied a population of 188 individuals, carrying mutations at codon 634, namely C634R (65 patients belonging to 10 families), C634Y (80 patients belonging to 11 families), or the less frequent codon 634 mutations [i.e. 9467562

1998
dbSNP: rs75996173
rs75996173
RET
0.050 GeneticVariation BEFREE These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. 9820617

1998
dbSNP: rs1042636
rs1042636
CASR
0.010 GeneticVariation BEFREE MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly. 22577108

2012
dbSNP: rs104893689
rs104893689
CASR
0.010 GeneticVariation BEFREE Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature. 30730839

2019
dbSNP: rs1801725
rs1801725
CASR
0.010 GeneticVariation BEFREE A986S polymorphism of CaSR is an independent predictor of PTH level in normocalcemic hyperparathyroidism patients, but not in asymptomatic hyperparathyroidism. 26332755

2016
dbSNP: rs193922442
rs193922442
CASR
0.010 GeneticVariation BEFREE Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature. 30730839

2019
dbSNP: rs201858689
rs201858689
CASR
0.010 GeneticVariation BEFREE The NSHPT associated with biallelic Gly768Val mutations of the CASR in two siblings with severe hypercalcemia and hyperparathyroidism and their clinically and biochemically normal heterozygous parents was transmitted as an autosomal recessive disorder in this family. 24854525

2014
dbSNP: rs2282679
rs2282679
GC
0.010 GeneticVariation BEFREE Using the single nucleotide polymorphism rs2282679 as an instrumental variable, we applied Mendelian randomization methods to determine the causal effect of DBP on calcemic (osteoporosis and hyperparathyroidism) and cardiometabolic diseases (hypertension, type 2 diabetes, coronary artery disease, and stroke) and related traits, first in CaMos and then in large-scale genome-wide association study consortia. 25350643

2014
dbSNP: rs377767404
rs377767404
RET
0.010 GeneticVariation BEFREE Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. 16053382

2005
dbSNP: rs61734277
rs61734277
GCM2
0.010 GeneticVariation BEFREE The Y282D variant of GCM2 exhibits increased transcriptional activity, and the presence of this variant is significantly associated with a higher prevalence of primitive hyperparathyroidism. 28609842

2017
dbSNP: rs6254
rs6254
PTH
0.010 GeneticVariation BEFREE The aim of the present study was to evaluate the clinical effect of <i>PTH</i> polymorphism (rs6254) in normocalcemic and asymptomatic HPT. 27756092

2016
dbSNP: rs767363250
rs767363250
CASR
0.010 GeneticVariation BEFREE Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric hypercalcaemia (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome due to a hyperparathyroidism type 2 deletional-frameshift mutation (c.1239delA), respectively. 19953642

2010
dbSNP: rs78014899
rs78014899
RET
0.010 GeneticVariation BEFREE To date in this family the E768D mutation has not been associated with either phaeochromocytoma or hyperparathyroidism. 16736292

2006