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Variant (rsID / SNP)

rs149830493

COL9A1

rs149830493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A1. Location: chromosome 6, position 70,991,091. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL9A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:70991091
Cytoband
6q13
HGVS
NM_001851.6(COL9A1):c.876+2T>A
Allele change
Silent

Associated conditions / phenotypes

Epiphyseal dysplasia, multiple, 6|Stickler syndrome, type 4|COL9A1-Related Disorders

Public references

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