Variant (rsID / SNP)
rs11972404
rs11972404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPER. Location: chromosome 7, position 34,193,589. Clinical significance in the table: Benign.
Reference-table entries
BMPERBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:34193589
- Cytoband
- 7p14.3
- HGVS
- NM_001365308.1(BMPER):c.*704A>G
- Allele change
- Silent
Associated conditions / phenotypes
Diaphanospondylodysostosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.