Variant (rsID / SNP)

rs3754334

rs3754334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPHA2. Location: chromosome 1, position 16,451,767. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EPHA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:16451767
Cytoband: 1p36.13
HGVS: NM_004431.5(EPHA2):c.2874C>T (p.Ile958=)
Allele change: Synonymous_I958I

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.