rs202199891, APC

N. diseases: 3
Disease: Hyperparathyroidism, Primary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
0.010 GeneticVariation BEFREE A genetic variant in the APC gene co-segregating with PHPT (p.Val530Ala) was detected in a family whose affected relatives had additional tumors, including colonic polyposis. 31486992 2020