Disease: Familial Isolated Hyperparathyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2072407
rs2072407
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4551961
Disease:
Familial Isolated Hyperparathyroidism 		0.010 GeneticVariation BEFREE Two polymorphisms of the EZH2 gene were identified with different prevalence: the rs2072407 variant was present in the 30 % of the samples, in keeping with the overall frequency in larger populations, while the rs78589034 variant, located close to the 5' end of the exon 16, was detected in only one proband with familial isolated hyperparathyroidism; we investigated the possible outcome on the splicing process. 26876532 2016