{{Rsnum
|rsid=112029328
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=19
|Orientation=plus
|Gene=LDLR
|position=11102787
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LDLR
}}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]] {{PMID|7749829}} that appears to be the same as FH Elverum (see [http://www.ncbi.nlm.nih.gov/omim/606945#606945Variants0054 OMIM 606945.0054]).{{ClinVar
|rsid=112029328
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=11213463
|CHROM=19
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000040502100100
|GENEINFO=LDLR:3949
|GENE_NAME=LDLR
|GENE_ID=3949
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11213463G>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;SLO;VLD;HD;GNO;OTHERKG;LSD
|CLNACC=RCV000003934.1; RCV000058917.1
|CLNDBN=Familial hypercholesterolemia; not provided
|CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0020445:143890:144400:397915002:398036000
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606945.0054
|Disease=Familial hypercholesterolemia; not provided
}}{{PMID Auto
|PMID=19602640
|Title=The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
|OA=1
}}