Gene entry
LRP5
LDL receptor related protein 5
- Chromosome
- 11
- Cytoband
- 11q13.2
- Variants (rsID)
- 48
LRP5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.2). Its official name is “LDL receptor related protein 5”. The reference table lists 48 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs2306862Benignsingle nucleotide variantBone mineral density quantitative trait locus 1|Osteogenesis imperfecta|Increased bone mineral density
- rs3736228Benignsingle nucleotide variantOsteoporosis with pseudoglioma|Osteogenesis imperfecta|Increased bone mineral density
- rs4988321Benignsingle nucleotide variantOsteoporosis with pseudoglioma|Increased bone mineral density|Osteogenesis imperfecta
- rs1127291Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta
- rs147618989Conflicting interpretationssingle nucleotide variantExudative vitreoretinopathy 4
- rs148685646Conflicting interpretationssingle nucleotide variantPostmenopausal osteoporosis|Osteogenesis imperfecta|Increased bone mineral density
- rs78219242Conflicting interpretationssingle nucleotide variant
- rs121908664Pathogenicsingle nucleotide variantOsteoporosis with pseudoglioma|Exudative vitreoretinopathy 1
- rs121908670Pathogenicsingle nucleotide variantWorth disease|Autosomal dominant osteopetrosis 1
- rs80358313Pathogenicsingle nucleotide variantExudative vitreoretinopathy 4, autosomal recessive
- rs201320326Uncertain significancesingle nucleotide variantInborn genetic diseases|9 conditions
- rs201916993Uncertain significancesingle nucleotide variant
Other listed variants
- rs312009
- rs314750
- rs474742
- rs599083
- rs632605
- rs634008
- rs660925
- rs3781586
- rs3781590
- rs4988300
- rs4988332
- rs11574424
- rs11607979
- rs11826287
- rs12417014
- rs35388122
- rs57928864
- rs72932379
- rs75177427
- rs75210709
- rs75290885
- rs76564341
- rs76710454
- rs111489476
- rs118062233
- rs118098503
- rs138777930
- rs145008551
- rs149073088
- rs183377804
- rs185848349
- rs200501120
- rs200728516
- rs200740071
- rs201475647
- rs533862546
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.