{{Rsnum
|rsid=137853965
|geno1=(-;-)
|geno2=(-;C)
|geno3=(C;C)
|Chromosome=19
|Orientation=plus
|Gene=LDLR
|position=11120443
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LDLR
}}The C allele of this SNP in the low density lipoprotein receptor [[LDLR]] gene, which is a dominant insertion mutation also known as p.N688QfsX29, causes [[familial hypercholesterolemia]]. {{PMID|16159606}}{{ClinVar
|rsid=137853965
|Reversed=0
|FwdALT=C
|REF=T
|ALT=TC
|RSPOS=11231118
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002100200
|GENEINFO=LDLR:3949
|GENE_NAME=LDLR
|GENE_ID=3949
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.11231119_11231120insC
|CLNORIGIN=1
|CLNSIG=1
|Tags=PM;PMC;S3D;OTHERKG;LSD
|CLNACC=RCV000058921.1
|CLNDBN=not provided
|Disease=not provided
}}{{PMID Auto
|PMID=19602640
|Title=The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
|OA=1
}}