Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
RET
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.040 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
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.040 GeneticVariation BEFREE The frequency of mutations at codon 634 was higher in patients with MEN 2A than with FMTC and a 634 Cys-->Arg mutation was associated with parathyroid disease in three patients. 8625130

1995
dbSNP: rs75076352
rs75076352
RET
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.040 GeneticVariation BEFREE Furthermore, our results are in accordance with the observation that MEN 2A patients with Cys 634-->Arg (germline) mutations have a higher risk of developing parathyroid disease than those with other mutations at codon 634. 7495285

1995
dbSNP: rs75076352
rs75076352
RET
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.040 GeneticVariation BEFREE MEN 2A patients with a Cys634 to Arg substitution had a greater risk of developing parathyroid disease than those with other codon 634 mutations. 7907913

1994