Variant (rsID / SNP)

rs592121

rs592121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A1. Location: chromosome 6, position 70,984,436. Clinical significance in the table: Benign.

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Reference-table entries

COL9A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:70984436
Cytoband: 6q13
HGVS: NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro)
Allele change: Missense_S96P

Associated conditions / phenotypes

Epiphyseal dysplasia, multiple, 6

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.