Variant (rsID / SNP)

rs72648320

rs72648320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,272,794. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL1A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:48272794
Cytoband: 17q21.33
HGVS: NM_000088.4(COL1A1):c.1200+1G>A
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta|Osteogenesis imperfecta type I

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.