Variant (rsID / SNP)

rs121908664

rs121908664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP5. Location: chromosome 11, position 68,157,417. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LRP5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:68157417
Cytoband: 11q13.2
HGVS: NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
Allele change: Missense_R494Q

Associated conditions / phenotypes

Osteoporosis with pseudoglioma|Exudative vitreoretinopathy 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.