Variant (rsID / SNP)

rs142792529

rs142792529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A3. Location: chromosome 20, position 61,470,065. Clinical significance in the table: Benign.

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Reference-table entries

COL9A3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:61470065
Cytoband: 20q13.33
HGVS: NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)
Allele change: Missense_A606T

Associated conditions / phenotypes

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.