LRP6 Chromosome 12

LDL receptor related protein 6

67 variants 67 Health Risk

Upload your DNA to see your personal genotypes for variants in LRP6.

What This Gene Does

This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]

Gene Info

Gene Group

Low density lipoprotein receptors

Locus Type

gene with protein product

Location

12p13.2

Ensembl

ENSG00000070018

Associated Conditions (10)

Inborn genetic diseases

Coronary artery disease

autosomal dominant 2

Tooth agenesis

selective

LRP6-related disorder

Autosomal dominant polycystic liver disease

Oligodontia

Orofacial cleft

Key Variants

RS138127286

Conflicting classifications of pathogenicity

Inborn genetic diseases, Coronary artery disease, autosomal dominant 2

Health Risk

RS138911001

Conflicting classifications of pathogenicity

Health Risk

RS139480047

Conflicting classifications of pathogenicity

Inborn genetic diseases, LRP6-related disorder, Inborn genetic diseases

Health Risk

RS140182370

Conflicting classifications of pathogenicity

Autosomal dominant polycystic liver disease, Inborn genetic diseases, Autosomal dominant polycystic liver disease

Health Risk

RS144346961

Conflicting classifications of pathogenicity

Health Risk

RS145431655

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS146407496

Conflicting classifications of pathogenicity

Health Risk

RS188649737

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS199693693

Conflicting classifications of pathogenicity

Health Risk

RS560813860

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS751325508

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS764620253

Conflicting classifications of pathogenicity

Health Risk

All Variants (67)

RSID	Category	Clinical Significance	Conditions
RS138127286	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Coronary artery disease, autosomal dominant 2
RS138911001	Health Risk	Conflicting classifications of pathogenicity	LRP6-related disorder, Inborn genetic diseases, LRP6-related disorder
RS139480047	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, LRP6-related disorder, Inborn genetic diseases
RS140182370	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant polycystic liver disease, Inborn genetic diseases, Autosomal dominant polycystic liver disease
RS144346961	Health Risk	Conflicting classifications of pathogenicity	LRP6-related disorder, Inborn genetic diseases, Coronary artery disease
RS145431655	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS146407496	Health Risk	Conflicting classifications of pathogenicity	LRP6-related disorder, Inborn genetic diseases, LRP6-related disorder
RS188649737	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS199693693	Health Risk	Conflicting classifications of pathogenicity	LRP6-related disorder, LRP6-related disorder
RS560813860	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS751325508	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS764620253	Health Risk	Conflicting classifications of pathogenicity	—
RS777057583	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS779768114	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS781207636	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS869320638	Health Risk	Conflicting classifications of pathogenicity	Tooth agenesis, selective, 7
RS1565563080	Health Risk	Likely pathogenic	Tooth agenesis, selective, 7
RS2136828141	Health Risk	Likely pathogenic	—
RS2137042982	Health Risk	Likely pathogenic	Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2498684078	Health Risk	Likely pathogenic	LRP6-related disorder, LRP6-related disorder
RS2498744424	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2498871403	Health Risk	Likely pathogenic	—
RS866789963	Health Risk	Likely pathogenic	Tooth agenesis, Tooth agenesis
RS869320637	Health Risk	Likely pathogenic	Tooth agenesis, Tooth agenesis
RS869320639	Health Risk	Likely pathogenic	Tooth agenesis, Tooth agenesis
RS869320640	Health Risk	Likely pathogenic	Tooth agenesis, Tooth agenesis
RS1064794970	Health Risk	Pathogenic	—
RS1184430122	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS1202176045	Health Risk	Pathogenic	—
RS121918313	Health Risk	Pathogenic	Coronary artery disease, autosomal dominant 2, LRP6-related disorder
RS1555106788	Health Risk	Pathogenic	—
RS1555108264	Health Risk	Pathogenic	—
RS1591901585	Health Risk	Pathogenic	Oligodontia, Tooth agenesis, selective
RS1863410159	Health Risk	Pathogenic	—
RS1949678319	Health Risk	Pathogenic	—
RS1950023882	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS2135918018	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS2136875298	Health Risk	Pathogenic	—
RS2136885834	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS2136914556	Health Risk	Pathogenic	—
RS2136919683	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS2136998055	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS2498598217	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS2498639066	Health Risk	Pathogenic	—
RS2498639236	Health Risk	Pathogenic	—
RS2498640156	Health Risk	Pathogenic	—
RS2498664359	Health Risk	Pathogenic	—
RS2498742907	Health Risk	Pathogenic	Tooth agenesis, selective, 7
RS2498826813	Health Risk	Pathogenic	—
RS2498872352	Health Risk	Pathogenic	Oligodontia, Oligodontia

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