Variant (rsID / SNP)
rs3736228
rs3736228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,201,295. Clinical significance in the table: Benign.
Reference-table entries
LRP5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:68201295
- Cytoband
- 11q13.2
- HGVS
- NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
- Allele change
- Missense_A1330V
Associated conditions / phenotypes
Osteoporosis with pseudoglioma|Osteogenesis imperfecta|Increased bone mineral density
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.