Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749780672
rs749780672
LDLR ; MIR6886
0.010 GeneticVariation BEFREE In conclusion, along with another LDL receptor gene mutation (FH-Espoo or deletion of exon 15) described by us previously, the Asp235-->Glu mutation (designated as FH-Keuruu) indicates that moderate varieties of inherited hypercholesterolemia may result from LDL receptor gene mutations of mild expression. 9261272

1997