Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942098
rs28942098
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1704981
Disease:
Hyperparathyroidism-Jaw Tumor Syndrome
0.710 GeneticVariation BEFREE A germline p.M1I mutation has been previously reported in a family with clinical features of HPT-JT. 30452964 2019
dbSNP: rs28942098
rs28942098
Entrez Id: 79577;101929160
Gene Symbol: CDC73;LOC101929160
CDC73;LOC101929160
CUI: C1704981
Disease:
Hyperparathyroidism-Jaw Tumor Syndrome
A 0.710 CausalMutation CLINVAR