Variant (rsID / SNP)

rs2291804

rs2291804 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA2. Location: chromosome 1, position 16,464,936. Clinical significance in the table: Benign.

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Reference-table entries

EPHA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:16464936
Cytoband: 1p36.13
HGVS: NM_004431.5(EPHA2):c.824-11G>A
Allele change: Silent

Associated conditions / phenotypes

Cataract 6 multiple types

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.