Variant (rsID / SNP)

rs79980197

rs79980197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL18A1. Location: chromosome 21, position 46,911,188. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL18A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:46911188
Cytoband: 21q22.3
HGVS: NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)
Allele change: Missense_P706R

Associated conditions / phenotypes

Knobloch syndrome|Glaucoma, primary closed-angle

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.