Variant (rsID / SNP)
rs970901
rs970901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,141,475. Clinical significance in the table: Benign.
Reference-table entries
COL11A2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:33141475
- Cytoband
- 6p21.32
- HGVS
- NM_080680.3(COL11A2):c.2628+3G>A
- Allele change
- Silent
Associated conditions / phenotypes
Stickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive|Fibrochondrogenesis 2|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Autosomal dominant nonsyndromic hearing loss 13|Autosomal recessive nonsyndromic hearing loss 53
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.