Variant (rsID / SNP)
rs1052502
rs1052502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AHI1. Location: chromosome 6, position 135,606,565. Clinical significance in the table: Benign.
Reference-table entries
AHI1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:135606565
- Cytoband
- 6q23.3
- HGVS
- NM_001134831.2(AHI1):c.*218C>T
- Allele change
- Silent
Associated conditions / phenotypes
Joubert syndrome 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.