Variant (rsID / SNP)
rs143383
rs143383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF5. Location: chromosome 20, position 34,025,983. Clinical significance in the table: Benign.
Reference-table entries
GDF5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:34025983
- Cytoband
- 20q11.22
- HGVS
- NM_000557.5(GDF5):c.-275=
- Allele change
- Silent
Associated conditions / phenotypes
Osteoarthritis of hip|Grebe syndrome|Acromesomelic dysplasia 2C, Hunter-Thompson type|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2B|Brachydactyly
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.