Variant (rsID / SNP)

rs11702425

rs11702425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL18A1. Location: chromosome 21, position 46,908,355. Clinical significance in the table: Benign.

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Reference-table entries

COL18A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:46908355
Cytoband: 21q22.3
HGVS: NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=)
Allele change: Synonymous_L640L

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.