LRP5

LDL receptor related protein 5

Summary

This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants1,757 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs312009	11:68,077,238	T/C	regulatory region variant	—
rs114892151	11:68,079,857	C/T	—	benign
rs886042984	11:68,080,175	C/T	—	uncertain significance
rs2153110162	11:68,080,183	A/G	—	pathogenic
rs886042985	11:68,080,191	A/T	—	uncertain significance
rs1389034811	11:68,080,193	C/G	—	uncertain significance
rs886042986	11:68,080,194	G/A	—	uncertain significance
rs2496190917	11:68,080,195	C/G	—	uncertain significance
rs886042987	11:68,080,196	C/T	—	uncertain significance
rs1004096379	11:68,080,197	G/C	—	likely benign
rs771718186	11:68,080,198	C/A	—	likely benign
rs1334141997	11:68,080,200	C/T	—	likely benign
rs1320492358	11:68,080,201	G/C	—	uncertain significance
rs895427090	11:68,080,204	C/A	—	uncertain significance
rs121908660	11:68,080,211	G/A	stop gained	pathogenic
rs1272970460	11:68,080,213	C/T	—	uncertain significance
rs1019409513	11:68,080,217	T/A	—	uncertain significance
rs2098589290	11:68,080,219	C/T	—	likely benign
rs2098589299	11:68,080,225	C/G	—	uncertain significance
rs2153110205	11:68,080,233	G/A	—	likely benign
rs777352225	11:68,080,234	C/T	—	likely benign
rs2098589338	11:68,080,239	G/C	—	likely benign
rs2153110217	11:68,080,241	T/C	—	uncertain significance
rs965261452	11:68,080,242	G/A	—	likely benign
rs1401531348	11:68,080,245	G/C	—	likely benign
rs2496192099	11:68,080,247	T/C	—	uncertain significance
rs2098589360	11:68,080,249	T/G	—	uncertain significance
rs2098589368	11:68,080,253	G/A	—	uncertain significance
rs2496192223	11:68,080,255	T/C	—	uncertain significance
rs2153110233	11:68,080,260	G/C	—	likely benign
rs2153110234	11:68,080,262	C/G	—	uncertain significance
rs2098589389	11:68,080,263	C/G	—	likely benign
rs886042988	11:68,080,272	G/A	—	uncertain significance
rs2153110244	11:68,080,274	G/T	—	likely pathogenic
rs1188535039	11:68,080,277	G/A	—	uncertain significance
rs2153110247	11:68,080,281	G/A	—	likely benign
rs569517144	11:68,080,282	G/C	—	conflicting classifications of pathogenicity
rs1381790426	11:68,080,284	G/T	—	likely benign
rs976965563	11:68,080,285	C/T	—	likely benign
rs886042989	11:68,080,286	A/G	—	uncertain significance
rs2098589440	11:68,080,288	G/T	—	likely benign
rs1330303034	11:68,080,290	C/T	—	likely benign
rs886042990	11:68,080,292	G/A	—	uncertain significance
rs188945519	11:68,080,550	C/G	—	benign
rs4988300	11:68,088,831	G/T	intron variant	—
rs4988301	11:68,089,104	C/T	intron variant	—
rs634008	11:68,094,741	C/G	—	—
rs314779	11:68,097,826	T/G	intron variant	—
rs61887821	11:68,099,622	G/A	intron variant	—
rs142253047	11:68,115,220	A/C	—	likely benign
rs371340489	11:68,115,295	G/A	—	likely benign
rs2153129263	11:68,115,302	T/C	—	likely benign
rs1351634941	11:68,115,303	T/A	—	likely benign
rs1591204096	11:68,115,305	T/G	—	likely benign
rs1335499175	11:68,115,308	C/T	—	likely benign
rs766661557	11:68,115,309	C/G	—	likely benign
rs753963707	11:68,115,310	C/G	—	likely benign
rs755388709	11:68,115,318	C/T	—	uncertain significance
rs202039395	11:68,115,319	G/A	—	benign
rs753259758	11:68,115,321	C/T	—	uncertain significance
rs375594120	11:68,115,322	G/T	—	likely benign
rs1249593548	11:68,115,325	C/A	—	likely benign
rs1053398255	11:68,115,331	A/G	—	likely benign
rs770308939	11:68,115,339	A/G	—	uncertain significance
rs780921829	11:68,115,341	C/G	—	uncertain significance
rs2098614505	11:68,115,342	G/A	—	uncertain significance
rs745454417	11:68,115,344	C/T	—	uncertain significance
rs573768844	11:68,115,345	G/A	—	uncertain significance
rs573589930	11:68,115,349	C/T	—	likely benign
rs775334774	11:68,115,350	G/A	—	uncertain significance
rs144719110	11:68,115,352	A/T	—	likely benign
rs371690402	11:68,115,353	C/T	—	uncertain significance
rs774243312	11:68,115,354	G/C	—	uncertain significance
rs1297714830	11:68,115,363	A/G	—	uncertain significance
rs375980894	11:68,115,364	C/T	—	likely benign
rs2098614549	11:68,115,366	C/G	—	uncertain significance
rs776920568	11:68,115,367	C/T	—	conflicting classifications of pathogenicity
rs759606638	11:68,115,368	G/A	—	uncertain significance
rs1215326035	11:68,115,370	C/T	—	likely benign
rs558895370	11:68,115,371	G/A	—	uncertain significance
rs764736624	11:68,115,385	G/C	—	uncertain significance
rs148462220	11:68,115,387	C/T	—	uncertain significance
rs756806068	11:68,115,388	C/T	—	likely benign
rs1315886028	11:68,115,390	C/T	—	uncertain significance
rs1029914579	11:68,115,392	A/G	—	conflicting classifications of pathogenicity
rs543962342	11:68,115,394	C/T	—	likely benign
rs1462356607	11:68,115,395	G/A	—	uncertain significance
rs533073394	11:68,115,403	C/A	—	uncertain significance
rs757930323	11:68,115,404	G/A	—	uncertain significance
rs1368857613	11:68,115,405	G/T	—	uncertain significance
rs2098614678	11:68,115,407	C/G	—	uncertain significance
rs2496382658	11:68,115,410	G/A	—	uncertain significance
rs2496382674	11:68,115,412	G/A	—	likely benign
rs1289054172	11:68,115,417	C/T	—	uncertain significance
rs779662838	11:68,115,418	G/A	—	likely benign
rs763664158	11:68,115,421	C/T	—	likely benign
rs544861971	11:68,115,422	G/A	—	conflicting classifications of pathogenicity
rs540291726	11:68,115,424	A/C	—	likely benign
rs747974546	11:68,115,427	G/A	—	likely benign
rs1057519574	11:68,115,428	G/T	missense variant	pathogenic

Showing 100 of 1,757 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.