Variant (rsID / SNP)

rs2234693

rs2234693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESR1. Location: chromosome 6, position 152,163,335. Clinical significance in the table: risk factor.

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Reference-table entries

ESR1Risk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 6:152163335
Cytoband: 6q25.1
HGVS: NM_000125.4(ESR1):c.453-397T>C
Allele change: Silent

Associated conditions / phenotypes

Myocardial infarction, susceptibility to

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.