Variant (rsID / SNP)

rs73094730

rs73094730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF5. Location: chromosome 20, position 34,025,843. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GDF5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:34025843
Cytoband: 20q11.22
HGVS: NM_000557.5(GDF5):c.-135G>A
Allele change: Silent

Associated conditions / phenotypes

Brachydactyly|Acromesomelic dysplasia 2B|Grebe syndrome|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2C, Hunter-Thompson type

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.