Variant: rs1201229554

present in Gene: LDLRAP1 present in Chromosome: 1 Position on Chromosome: 25543763 Alleles of this Variant: G/-

rs1201229554 in LDLRAP1 gene and HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE PMID 11326085 2001 Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.