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Variant (rsID / SNP)

rs150687987

COL9A2

rs150687987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A2. Location: chromosome 1, position 40,766,942. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL9A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:40766942
Cytoband
1p34.2
HGVS
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
Allele change
Missense_P661L

Associated conditions / phenotypes

Epiphyseal dysplasia, multiple, 2|Connective tissue disorder

Public references

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