rs72653706, ABCC6

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
0.010 GeneticVariation BEFREE The patient was a compound heterozygous for two ABCC6 mutations (p.S317R and p.R1141X) and heterozygous for a novel LDLR mutation (p.R574H). 20018285 2010