Variant (rsID / SNP)

rs117159093

rs117159093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP1. Location: chromosome 8, position 22,059,342. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BMP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:22059342
Cytoband: 8p21.3
HGVS: NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser)
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta type 13

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.