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Variant (rsID / SNP)

rs61754581

GDF5

rs61754581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF5. Location: chromosome 20, position 34,025,212. 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
20:34025212
Cytoband
20q11.22
HGVS
NM_000557.5(GDF5):c.497C>A (p.Pro166His)
Allele change
Missense_P166H

Associated conditions / phenotypes

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

Public references

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