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Variant (rsID / SNP)

rs373605761

COL9A3

rs373605761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A3. Location: chromosome 20, position 61,448,950. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL9A3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:61448950
Cytoband
20q13.33
HGVS
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
Allele change
Missense_P37L

Public references

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