Variant (rsID / SNP)

rs143384

rs143384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF5. Location: chromosome 20, position 34,025,756. Clinical significance in the table: Benign.

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Reference-table entries

GDF5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:34025756
Cytoband: 20q11.22
HGVS: NM_000557.5(GDF5):c.-48=
Allele change: Silent

Associated conditions / phenotypes

Grebe syndrome|Brachydactyly|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2B|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.