Variant (rsID / SNP)

rs9341245

rs9341245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,302,923. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CYP1B1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:38302923
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.-2G>A
Allele change: Silent

Associated conditions / phenotypes

Irido-corneo-trabecular dysgenesis|Glaucoma 3A

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.