Variant (rsID / SNP)

rs77706858

rs77706858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A1. Location: chromosome 6, position 70,972,993. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL9A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:70972993
Cytoband: 6q13
HGVS: NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
Allele change: Missense_E207G

Associated conditions / phenotypes

Epiphyseal dysplasia, multiple, 6|Connective tissue disorder

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.