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Variant (rsID / SNP)

rs111570218

COL2A1

rs111570218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL2A1. Location: chromosome 12, position 48,376,733. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL2A1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:48376733
Cytoband
12q13.11
HGVS
NM_001844.5(COL2A1):c.2095-4G>A
Allele change
Silent

Associated conditions / phenotypes

Stickler syndrome type 1|Type II Collagenopathies|Connective tissue disorder

Public references

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