Rs112029328

The A allele of this SNP in the low density lipoprotein receptor (LDLR) gene, which is a dominant mutation that provokes a skip of exon 3, leads to a form of familial hypercholesterolemia that appears to be the same as FH Elverum (see OMIM 606945.0054).


 * is_associated_with_disease::Familial hypercholesterolemia