Variant (rsID / SNP)

rs61729094

rs61729094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP1. Location: chromosome 8, position 22,059,323. Clinical significance in the table: Benign.

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Reference-table entries

BMP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:22059323
Cytoband: 8p21.3
HGVS: NM_006129.5(BMP1):c.2115C>T (p.Asp705=)
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta type 13|Osteogenesis imperfecta

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.