Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atypical Ductal Breast Hyperplasia
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
0.010 GeneticVariation BEFREE On the other hand, we identified six previously reported LDLR gene mutations (C107Y, D69N, R385W, W462X, G170X, V408M), two novel LDLR gene mutations (FsG631 and splice junction mutation of intron 10), and one known mutation (R3500W) and one novel missense mutation (T3540M) in the APOB gene that were present in 55 members from 18 ADH families (60%). 17964958 2007