Variant (rsID / SNP)

rs4987134

rs4987134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP1B1. Location: chromosome 2, position 38,302,546. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CYP1B1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:38302546
Cytoband: 2p22.2
HGVS: NM_000104.4(CYP1B1):c.-1-14C>T
Allele change: Silent

Associated conditions / phenotypes

Glaucoma 3A|Irido-corneo-trabecular dysgenesis

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.