{{Rsnum
|rsid=193922570
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=LDLR
|position=11120495
|Gene_s=LDLR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922570
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=11231171
|CHROM=19
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11231171G>C
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Familial hypercholesterolemia
|Disease=Familial hypercholesterolemia
|Tags=PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000030132.1
|CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0020445:143890:144400:397915002:398036000
|GENEINFO=LDLR:3949
|GENE_ID=3949
|GENE_NAME=LDLR
}}{{PMID Auto
|PMID=18325082
|Title=Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
}}

{{PMID Auto
|PMID=20506408
|Title=Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
}}

{{PMID Auto
|PMID=21382890
|Title=Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
}}

{{PMID Auto
|PMID=21642693
|Title=Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
}}