Variant (rsID / SNP)
rs10961689
rs10961689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,737,506. Clinical significance in the table: Benign.
Reference-table entries
FREM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:14737506
- Cytoband
- 9p22.3
- HGVS
- NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro)
- Allele change
- Missense_Q679P
Associated conditions / phenotypes
Oculotrichoanal syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.