{{Rsnum
|rsid=193922571
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=LDLR
|position=11105268
|Gene_s=LDLR
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922571
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=11215944
|CHROM=19
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050268000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11215944G>A
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Familial hypercholesterolemia
|Disease=Familial hypercholesterolemia
|Tags=PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000030136.1
|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=16465405
|Title=Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
}}

{{PMID Auto
|PMID=18096825
|Title=Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.
}}