Variant (rsID / SNP)
rs11046589
rs11046589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFAP5. Location: chromosome 12, position 8,808,006. Clinical significance in the table: Benign.
Reference-table entries
MFAP5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:8808006
- Cytoband
- 12p13.31
- HGVS
- NM_003480.4(MFAP5):c.172+5A>G
- Allele change
- Silent
Associated conditions / phenotypes
Aortic aneurysm, familial thoracic 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
